Rare Gems: Navigating Goblet Cell Appendiceal Cancer

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Background

Goblet cell adenocarcinoma (GCA), also known as goblet cell carcinoid, is a rare and distinct type of cancer originating from the appendix. It is characterized by cells that exhibit both mucinous and neuroendocrine differentiation, presenting a more aggressive nature compared to conventional carcinoids and a higher propensity for metastasis.

Case Presentation

A 60-year-old male presented with complaints of abdominal pain, nausea, vomiting, constipation, and weight loss worsening in the last month. He had a history of heavy alcohol intake, smoking, and family history of colon cancer in his grandfather. Initial workup with abdominal CT revealed findings suggestive of early bowel obstruction and possible malignancy. Subsequent EGD showed esophagitis, and colonoscopy identified a cecal mass. Biopsies confirmed malignant cells of enteric type with goblet cell features. Staging CT during hospitalization did not reveal distant metastasis initially. However, diagnostic laparoscopy later identified widespread peritoneal carcinomatosis, precluding surgical intervention. The case was discussed in tumor boards, leading to the initiation of palliative FOLFOX + Bevacizumab chemotherapy. After completing 7 cycles, restaging imaging showed stable disease. Subsequently, the patient experienced worsening obstructive symptoms with CT abdomen and pelvis demonstrating disease progression. Given his condition, decompressive gastrostomy was not feasible. The patient decided to transition to comfort measures only.

Discussion

Goblet cell adenocarcinoma is a rare appendiceal tumor with amphicrine differentiation, occurring at a rate of 0.01–0.05 per 100,000 individuals annually and comprising approximately 15% of all appendiceal neoplasms. These tumors often disseminate within the peritoneum, contributing to their aggressive behavior and challenging management.

Conclusions

Metastatic goblet cell adenocarcinoma presents significant treatment challenges and is associated with a poor prognosis. Tailored treatment strategies, vigilant monitoring, and ongoing research efforts are essential for optimizing patient outcomes and enhancing quality of life in this aggressive cancer

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Background

Goblet cell adenocarcinoma (GCA), also known as goblet cell carcinoid, is a rare and distinct type of cancer originating from the appendix. It is characterized by cells that exhibit both mucinous and neuroendocrine differentiation, presenting a more aggressive nature compared to conventional carcinoids and a higher propensity for metastasis.

Case Presentation

A 60-year-old male presented with complaints of abdominal pain, nausea, vomiting, constipation, and weight loss worsening in the last month. He had a history of heavy alcohol intake, smoking, and family history of colon cancer in his grandfather. Initial workup with abdominal CT revealed findings suggestive of early bowel obstruction and possible malignancy. Subsequent EGD showed esophagitis, and colonoscopy identified a cecal mass. Biopsies confirmed malignant cells of enteric type with goblet cell features. Staging CT during hospitalization did not reveal distant metastasis initially. However, diagnostic laparoscopy later identified widespread peritoneal carcinomatosis, precluding surgical intervention. The case was discussed in tumor boards, leading to the initiation of palliative FOLFOX + Bevacizumab chemotherapy. After completing 7 cycles, restaging imaging showed stable disease. Subsequently, the patient experienced worsening obstructive symptoms with CT abdomen and pelvis demonstrating disease progression. Given his condition, decompressive gastrostomy was not feasible. The patient decided to transition to comfort measures only.

Discussion

Goblet cell adenocarcinoma is a rare appendiceal tumor with amphicrine differentiation, occurring at a rate of 0.01–0.05 per 100,000 individuals annually and comprising approximately 15% of all appendiceal neoplasms. These tumors often disseminate within the peritoneum, contributing to their aggressive behavior and challenging management.

Conclusions

Metastatic goblet cell adenocarcinoma presents significant treatment challenges and is associated with a poor prognosis. Tailored treatment strategies, vigilant monitoring, and ongoing research efforts are essential for optimizing patient outcomes and enhancing quality of life in this aggressive cancer

Background

Goblet cell adenocarcinoma (GCA), also known as goblet cell carcinoid, is a rare and distinct type of cancer originating from the appendix. It is characterized by cells that exhibit both mucinous and neuroendocrine differentiation, presenting a more aggressive nature compared to conventional carcinoids and a higher propensity for metastasis.

Case Presentation

A 60-year-old male presented with complaints of abdominal pain, nausea, vomiting, constipation, and weight loss worsening in the last month. He had a history of heavy alcohol intake, smoking, and family history of colon cancer in his grandfather. Initial workup with abdominal CT revealed findings suggestive of early bowel obstruction and possible malignancy. Subsequent EGD showed esophagitis, and colonoscopy identified a cecal mass. Biopsies confirmed malignant cells of enteric type with goblet cell features. Staging CT during hospitalization did not reveal distant metastasis initially. However, diagnostic laparoscopy later identified widespread peritoneal carcinomatosis, precluding surgical intervention. The case was discussed in tumor boards, leading to the initiation of palliative FOLFOX + Bevacizumab chemotherapy. After completing 7 cycles, restaging imaging showed stable disease. Subsequently, the patient experienced worsening obstructive symptoms with CT abdomen and pelvis demonstrating disease progression. Given his condition, decompressive gastrostomy was not feasible. The patient decided to transition to comfort measures only.

Discussion

Goblet cell adenocarcinoma is a rare appendiceal tumor with amphicrine differentiation, occurring at a rate of 0.01–0.05 per 100,000 individuals annually and comprising approximately 15% of all appendiceal neoplasms. These tumors often disseminate within the peritoneum, contributing to their aggressive behavior and challenging management.

Conclusions

Metastatic goblet cell adenocarcinoma presents significant treatment challenges and is associated with a poor prognosis. Tailored treatment strategies, vigilant monitoring, and ongoing research efforts are essential for optimizing patient outcomes and enhancing quality of life in this aggressive cancer

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Neuroendocrine Tumor of Ampulla of Vater: A Rare Case Report and Review of Literature

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Background

Ampulla of Vater is an extremely rare site for neuroendocrine tumors (NET), accounting for less than 0.3% of gastrointestinal (GI) and 2% of ampullary malignancies. This case report highlights the circuitous diagnosis of this rare tumor in a patient with a history of primary biliary cholangitis presenting with epigastric pain and severe pruritis.

Case Presentation

A 58-year-old female with history of sarcoidosis and primary biliary cholangitis status post sphincterotomy eight months prior, presented with worsening epigastric pain, fatigue, and weight loss over 6 months. Physical exam showed right upper quadrant tenderness. Labs revealed elevated alanine and aspartate aminotransferases at 415 and 195 units/L, with bilirubin of 0.3 mg/dl. Computerized tomography (CT) revealed a 2.3x3.2x4.0 cm peripancreatic hypodensity associated with phlegmon, pancreatic ductal dilation and pneumobilia. Magnetic resonance imaging (MRI) demonstrated a pancreatic head mass. Positron emission tomogram (PET) was negative for distant metastases. After discussion of management options, patient opted for Whipple procedure. The surgical pathology was consistent with invasive ampullary ductal carcinoma of the small intestine, pancreaticobiliary type. However, staining for synaptophysin and chromogranin were positive, with Ki-67 < 55%. Tumor board review confirmed neuroendocrine tumor of the ampulla of Vater. NCCN guidelines recommended active surveillance due to locoregional disease without positive margins or lymph nodes, advising routine follow-up and imaging.

Discussion

Neuroendocrine tumors (NET) at the Ampulla of Vater are exceedingly rare. Often manifesting as obstructive jaundice, they pose diagnostic hurdles, especially in patients with anatomical variations like scarring from primary biliary cholangitis. In a case series of 20 ampullary tumors, only one was neuroendocrine, highlighting their rarity. Accurate diagnosis, achieved through surgical biopsy and immunohistochemical testing, is crucial for appropriate management. Following NCCN guidelines for gastrointestinal NETs, our patient avoided unnecessary systemic treatment meant for adenocarcinoma, preserving her quality of life. Reporting such cases is essential for advancing understanding and refining patient care.

Conclusions

This case had evolving diagnoses, altering both the prognosis and treatment standards. Comorbid primary biliary cholangitis and high-grade tumor complexity posed diagnostic challenges, which was finally confirmed by surgical biopsy. Reporting such cases is vital in aiding tumor management and patient outcomes.

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Background

Ampulla of Vater is an extremely rare site for neuroendocrine tumors (NET), accounting for less than 0.3% of gastrointestinal (GI) and 2% of ampullary malignancies. This case report highlights the circuitous diagnosis of this rare tumor in a patient with a history of primary biliary cholangitis presenting with epigastric pain and severe pruritis.

Case Presentation

A 58-year-old female with history of sarcoidosis and primary biliary cholangitis status post sphincterotomy eight months prior, presented with worsening epigastric pain, fatigue, and weight loss over 6 months. Physical exam showed right upper quadrant tenderness. Labs revealed elevated alanine and aspartate aminotransferases at 415 and 195 units/L, with bilirubin of 0.3 mg/dl. Computerized tomography (CT) revealed a 2.3x3.2x4.0 cm peripancreatic hypodensity associated with phlegmon, pancreatic ductal dilation and pneumobilia. Magnetic resonance imaging (MRI) demonstrated a pancreatic head mass. Positron emission tomogram (PET) was negative for distant metastases. After discussion of management options, patient opted for Whipple procedure. The surgical pathology was consistent with invasive ampullary ductal carcinoma of the small intestine, pancreaticobiliary type. However, staining for synaptophysin and chromogranin were positive, with Ki-67 < 55%. Tumor board review confirmed neuroendocrine tumor of the ampulla of Vater. NCCN guidelines recommended active surveillance due to locoregional disease without positive margins or lymph nodes, advising routine follow-up and imaging.

Discussion

Neuroendocrine tumors (NET) at the Ampulla of Vater are exceedingly rare. Often manifesting as obstructive jaundice, they pose diagnostic hurdles, especially in patients with anatomical variations like scarring from primary biliary cholangitis. In a case series of 20 ampullary tumors, only one was neuroendocrine, highlighting their rarity. Accurate diagnosis, achieved through surgical biopsy and immunohistochemical testing, is crucial for appropriate management. Following NCCN guidelines for gastrointestinal NETs, our patient avoided unnecessary systemic treatment meant for adenocarcinoma, preserving her quality of life. Reporting such cases is essential for advancing understanding and refining patient care.

Conclusions

This case had evolving diagnoses, altering both the prognosis and treatment standards. Comorbid primary biliary cholangitis and high-grade tumor complexity posed diagnostic challenges, which was finally confirmed by surgical biopsy. Reporting such cases is vital in aiding tumor management and patient outcomes.

Background

Ampulla of Vater is an extremely rare site for neuroendocrine tumors (NET), accounting for less than 0.3% of gastrointestinal (GI) and 2% of ampullary malignancies. This case report highlights the circuitous diagnosis of this rare tumor in a patient with a history of primary biliary cholangitis presenting with epigastric pain and severe pruritis.

Case Presentation

A 58-year-old female with history of sarcoidosis and primary biliary cholangitis status post sphincterotomy eight months prior, presented with worsening epigastric pain, fatigue, and weight loss over 6 months. Physical exam showed right upper quadrant tenderness. Labs revealed elevated alanine and aspartate aminotransferases at 415 and 195 units/L, with bilirubin of 0.3 mg/dl. Computerized tomography (CT) revealed a 2.3x3.2x4.0 cm peripancreatic hypodensity associated with phlegmon, pancreatic ductal dilation and pneumobilia. Magnetic resonance imaging (MRI) demonstrated a pancreatic head mass. Positron emission tomogram (PET) was negative for distant metastases. After discussion of management options, patient opted for Whipple procedure. The surgical pathology was consistent with invasive ampullary ductal carcinoma of the small intestine, pancreaticobiliary type. However, staining for synaptophysin and chromogranin were positive, with Ki-67 < 55%. Tumor board review confirmed neuroendocrine tumor of the ampulla of Vater. NCCN guidelines recommended active surveillance due to locoregional disease without positive margins or lymph nodes, advising routine follow-up and imaging.

Discussion

Neuroendocrine tumors (NET) at the Ampulla of Vater are exceedingly rare. Often manifesting as obstructive jaundice, they pose diagnostic hurdles, especially in patients with anatomical variations like scarring from primary biliary cholangitis. In a case series of 20 ampullary tumors, only one was neuroendocrine, highlighting their rarity. Accurate diagnosis, achieved through surgical biopsy and immunohistochemical testing, is crucial for appropriate management. Following NCCN guidelines for gastrointestinal NETs, our patient avoided unnecessary systemic treatment meant for adenocarcinoma, preserving her quality of life. Reporting such cases is essential for advancing understanding and refining patient care.

Conclusions

This case had evolving diagnoses, altering both the prognosis and treatment standards. Comorbid primary biliary cholangitis and high-grade tumor complexity posed diagnostic challenges, which was finally confirmed by surgical biopsy. Reporting such cases is vital in aiding tumor management and patient outcomes.

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Preleukemic Chronic Myeloid Leukemia: A Case Report and Literature Review

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Background

CML is usually classified in chronic phase (CP), accelerated phase (AP) and/or Blast phase (BP). Studies have described another provisional entity as Preleukemic phase of CML which precedes CP and is without leukocytosis and blood features of CP phase of CML. Here we will present a case of metastatic prostate cancer, where next-generation sequencing showed BCR-ABL1 but no overt leukocytosis and then later developed clinical CML after 11 months.

Case Presentation

Our patient was 87-yr-old male with history of metastatic prostate cancer, who presented with elevated PSA levels and new bony metastasis. He underwent next-generation-sequencing (foundation one liquid cdx) in April 2022. It did not show reportable alterations related to prostate cancer but BCR-ABL1 (p210) fusion was detected. It also showed ASXL1-S846fs5 and TET2-Q1548 that are also markers of clonal hematopoiesis. In March 2023 (11 months after the finding of BCR-ABL1), he developed asymptomatic leukocytosis, Workup showed BCR-ABL1(210) of 44% in peripheral blood and bone marrow showed 9% blasts. He was started on Imatinib after shared decision-making and considering the toxicity profile and comorbidities. He followed up regularly with improvement in leukocytosis.

Discussion

The diagnosis of CML is first suspected by typical findings in blood and/or bone marrow and then confirmed by presence of Philadelphia chromosome. Along with chronic and accelerated phases, there is another term described in few cases called “preleukemic or smoldering or aleukemic phase.” This is not a wellestablished term but mostly defined as normal leukocyte count with presence of BCR/ABL1 fusion gene/ ph chromosome. Preleukemic phase of CML is mostly underdiagnosed or misdiagnosed. Our case is unique in that BCR/ABL1 fusion was detected incidentally on next-generation sequencing and patient progressed to chronic phase of CML 11 months later. Upon literature review, few case reports and case series documenting aleukemic/preleukemic phase of CML but timing from the appearance of BCR/ABL1 mutation to actual development to leukocytosis is not well documented. Especially in the era of NGS testing, patients with incidental BCR-ABL1 should be evaluated further irrespective of normal WBC. Further studies need to be done to recognize this early and decrease the delay in treatment.

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Background

CML is usually classified in chronic phase (CP), accelerated phase (AP) and/or Blast phase (BP). Studies have described another provisional entity as Preleukemic phase of CML which precedes CP and is without leukocytosis and blood features of CP phase of CML. Here we will present a case of metastatic prostate cancer, where next-generation sequencing showed BCR-ABL1 but no overt leukocytosis and then later developed clinical CML after 11 months.

Case Presentation

Our patient was 87-yr-old male with history of metastatic prostate cancer, who presented with elevated PSA levels and new bony metastasis. He underwent next-generation-sequencing (foundation one liquid cdx) in April 2022. It did not show reportable alterations related to prostate cancer but BCR-ABL1 (p210) fusion was detected. It also showed ASXL1-S846fs5 and TET2-Q1548 that are also markers of clonal hematopoiesis. In March 2023 (11 months after the finding of BCR-ABL1), he developed asymptomatic leukocytosis, Workup showed BCR-ABL1(210) of 44% in peripheral blood and bone marrow showed 9% blasts. He was started on Imatinib after shared decision-making and considering the toxicity profile and comorbidities. He followed up regularly with improvement in leukocytosis.

Discussion

The diagnosis of CML is first suspected by typical findings in blood and/or bone marrow and then confirmed by presence of Philadelphia chromosome. Along with chronic and accelerated phases, there is another term described in few cases called “preleukemic or smoldering or aleukemic phase.” This is not a wellestablished term but mostly defined as normal leukocyte count with presence of BCR/ABL1 fusion gene/ ph chromosome. Preleukemic phase of CML is mostly underdiagnosed or misdiagnosed. Our case is unique in that BCR/ABL1 fusion was detected incidentally on next-generation sequencing and patient progressed to chronic phase of CML 11 months later. Upon literature review, few case reports and case series documenting aleukemic/preleukemic phase of CML but timing from the appearance of BCR/ABL1 mutation to actual development to leukocytosis is not well documented. Especially in the era of NGS testing, patients with incidental BCR-ABL1 should be evaluated further irrespective of normal WBC. Further studies need to be done to recognize this early and decrease the delay in treatment.

Background

CML is usually classified in chronic phase (CP), accelerated phase (AP) and/or Blast phase (BP). Studies have described another provisional entity as Preleukemic phase of CML which precedes CP and is without leukocytosis and blood features of CP phase of CML. Here we will present a case of metastatic prostate cancer, where next-generation sequencing showed BCR-ABL1 but no overt leukocytosis and then later developed clinical CML after 11 months.

Case Presentation

Our patient was 87-yr-old male with history of metastatic prostate cancer, who presented with elevated PSA levels and new bony metastasis. He underwent next-generation-sequencing (foundation one liquid cdx) in April 2022. It did not show reportable alterations related to prostate cancer but BCR-ABL1 (p210) fusion was detected. It also showed ASXL1-S846fs5 and TET2-Q1548 that are also markers of clonal hematopoiesis. In March 2023 (11 months after the finding of BCR-ABL1), he developed asymptomatic leukocytosis, Workup showed BCR-ABL1(210) of 44% in peripheral blood and bone marrow showed 9% blasts. He was started on Imatinib after shared decision-making and considering the toxicity profile and comorbidities. He followed up regularly with improvement in leukocytosis.

Discussion

The diagnosis of CML is first suspected by typical findings in blood and/or bone marrow and then confirmed by presence of Philadelphia chromosome. Along with chronic and accelerated phases, there is another term described in few cases called “preleukemic or smoldering or aleukemic phase.” This is not a wellestablished term but mostly defined as normal leukocyte count with presence of BCR/ABL1 fusion gene/ ph chromosome. Preleukemic phase of CML is mostly underdiagnosed or misdiagnosed. Our case is unique in that BCR/ABL1 fusion was detected incidentally on next-generation sequencing and patient progressed to chronic phase of CML 11 months later. Upon literature review, few case reports and case series documenting aleukemic/preleukemic phase of CML but timing from the appearance of BCR/ABL1 mutation to actual development to leukocytosis is not well documented. Especially in the era of NGS testing, patients with incidental BCR-ABL1 should be evaluated further irrespective of normal WBC. Further studies need to be done to recognize this early and decrease the delay in treatment.

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Male Patient With a History of Monoclonal B Cell Lymphocytosis Presenting with Breast Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma: A Case Report and Literature Review

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Background

Monoclonal B cell lymphocytosis (MBL) is defined as presence of clonal b cell population that is fewer than 5 × 10(9)/L B-cells in peripheral blood and no other signs of a lymphoproliferative disorder. Patients with MBL are usually monitored with periodic history, physical exam and blood counts. Here we presented a case of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) in breast in a patient with a history of MBL.

Case Presentation

68-year-old male with history of MBL underwent mammogram for breast mass. It showed suspicious 4.4 x 1.6 cm solid and cystic lesion containing a 1.7 x 0.9 x 1.8 cm solid hypervascular mass. Patient underwent left breast mass excision. Histologic sections focus of ADH involving papilloma with uninvolved margins. Lymphoid infiltrates noted had CLL/SLL immunophenotype and that it consists mostly of small B cells positive for CD5, CD20, CD23, CD43, Bcl-2, LEF1. CT CAP and PET/CT were negative for lymphadenopathy. Bone marrow biopsy showed marrow involvement by mature B-cell lymphoproliferative process, immunophenotypically consistent with CLL/SLL. As intra-ductal papilloma completely excised and hemogram was normal tumor board recommended surveillance only for CLL/SLL.

Discussion

MBL can progress to CLL, but it can rarely be presented as an extra-nodal mass in solid organs. We described a case of MBL that progressed to CLL/ SLL in breast mass in a male patient. This is the first reported case in literature where MBL progressed to CLL/ SLL of breast without lymphadenopathy. Upon literature review 8 case reports were found where CLL/SLL were described in breast tissue. 7 of them were in females and 1 one was in male. Two patients had CLL before breast mass but none of them had a history of MBL. 3 described cases in females had CLL/SLL infiltration of breast along with invasive ductal carcinoma. So, a patient with MBL can progress to involve solid organs despite no absolute lymphocytosis and should be considered in differentials of a new mass. Although more common in females, but it can occur in males as well. It’s important to consider the possibility of both CLL/SLL and breast cancer existing simultaneously.

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Background

Monoclonal B cell lymphocytosis (MBL) is defined as presence of clonal b cell population that is fewer than 5 × 10(9)/L B-cells in peripheral blood and no other signs of a lymphoproliferative disorder. Patients with MBL are usually monitored with periodic history, physical exam and blood counts. Here we presented a case of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) in breast in a patient with a history of MBL.

Case Presentation

68-year-old male with history of MBL underwent mammogram for breast mass. It showed suspicious 4.4 x 1.6 cm solid and cystic lesion containing a 1.7 x 0.9 x 1.8 cm solid hypervascular mass. Patient underwent left breast mass excision. Histologic sections focus of ADH involving papilloma with uninvolved margins. Lymphoid infiltrates noted had CLL/SLL immunophenotype and that it consists mostly of small B cells positive for CD5, CD20, CD23, CD43, Bcl-2, LEF1. CT CAP and PET/CT were negative for lymphadenopathy. Bone marrow biopsy showed marrow involvement by mature B-cell lymphoproliferative process, immunophenotypically consistent with CLL/SLL. As intra-ductal papilloma completely excised and hemogram was normal tumor board recommended surveillance only for CLL/SLL.

Discussion

MBL can progress to CLL, but it can rarely be presented as an extra-nodal mass in solid organs. We described a case of MBL that progressed to CLL/ SLL in breast mass in a male patient. This is the first reported case in literature where MBL progressed to CLL/ SLL of breast without lymphadenopathy. Upon literature review 8 case reports were found where CLL/SLL were described in breast tissue. 7 of them were in females and 1 one was in male. Two patients had CLL before breast mass but none of them had a history of MBL. 3 described cases in females had CLL/SLL infiltration of breast along with invasive ductal carcinoma. So, a patient with MBL can progress to involve solid organs despite no absolute lymphocytosis and should be considered in differentials of a new mass. Although more common in females, but it can occur in males as well. It’s important to consider the possibility of both CLL/SLL and breast cancer existing simultaneously.

Background

Monoclonal B cell lymphocytosis (MBL) is defined as presence of clonal b cell population that is fewer than 5 × 10(9)/L B-cells in peripheral blood and no other signs of a lymphoproliferative disorder. Patients with MBL are usually monitored with periodic history, physical exam and blood counts. Here we presented a case of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) in breast in a patient with a history of MBL.

Case Presentation

68-year-old male with history of MBL underwent mammogram for breast mass. It showed suspicious 4.4 x 1.6 cm solid and cystic lesion containing a 1.7 x 0.9 x 1.8 cm solid hypervascular mass. Patient underwent left breast mass excision. Histologic sections focus of ADH involving papilloma with uninvolved margins. Lymphoid infiltrates noted had CLL/SLL immunophenotype and that it consists mostly of small B cells positive for CD5, CD20, CD23, CD43, Bcl-2, LEF1. CT CAP and PET/CT were negative for lymphadenopathy. Bone marrow biopsy showed marrow involvement by mature B-cell lymphoproliferative process, immunophenotypically consistent with CLL/SLL. As intra-ductal papilloma completely excised and hemogram was normal tumor board recommended surveillance only for CLL/SLL.

Discussion

MBL can progress to CLL, but it can rarely be presented as an extra-nodal mass in solid organs. We described a case of MBL that progressed to CLL/ SLL in breast mass in a male patient. This is the first reported case in literature where MBL progressed to CLL/ SLL of breast without lymphadenopathy. Upon literature review 8 case reports were found where CLL/SLL were described in breast tissue. 7 of them were in females and 1 one was in male. Two patients had CLL before breast mass but none of them had a history of MBL. 3 described cases in females had CLL/SLL infiltration of breast along with invasive ductal carcinoma. So, a patient with MBL can progress to involve solid organs despite no absolute lymphocytosis and should be considered in differentials of a new mass. Although more common in females, but it can occur in males as well. It’s important to consider the possibility of both CLL/SLL and breast cancer existing simultaneously.

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UC as a Culprit for Hemolytic Anemia

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Introduction

Autoimmune hemolytic anemia (AIHA) can rarely be seen as an extra-intestinal manifestation (EIM) of inflammatory bowel disease (IBD), mostly ulcerative colitis (UC). This case report describes the clinical significance of recognizing AIHA in the context of UC.

Case Presentation

A 32-year-old male presented with profound fatigue, pallor, and dyspnea on exertion for one month. He also recalled intermittent bloody diarrhea for two years for which he never sought medical attention. Physical examination was unremarkable except for mid-abdominal tenderness. Labs revealed microcytosis, hemoglobin of 3.8 g/dL, total bilirubin 2.9 mg/ dL, indirect bilirubin of 2.0 mg/dL, LDH 132 U/L alk-p 459 U/L AST 98 U/L ALT 22 U/L. Direct Coombs test was positive suggesting warm AIHA with pan-agglutinin positive on the eluate test. Further testing revealed negative hepatitis and HIV panels and positive fecal calprotectin. CT abdomen and pelvis showed ascites, right pleural effusion and hepatosplenomegaly. Colonoscopy confirmed the diagnosis of ulcerative colitis, with extensive involvement of the colon. Mesalamine was initiated. Hematology was consulted for AIHA, who started the patient on methylprednisone leading to resolution of hemolytic anemia and improvement in gastrointestinal symptoms.

Discussion

IBD typically manifests as colitis, and the incidence of EIM as an initial symptom is observed in less than 10% cases. However, over the course of their lifetime, approximately 25% of patients will experience EIM, underscoring their relevance to clinical outcomes. Anemia is very common in IBD patients, mostly iron deficiency anemia (IDA) or anemia of chronic disease (ACD). However, AIHA can represent a rare but significant EIM of ulcerative colitis (UC), often posing diagnostic challenges. The underlying pathophysiological mechanisms linking UC and AIHA remain incompletely understood, necessitating a multidisciplinary approach to management. Treatment strategies focus on controlling both the hemolysis and the underlying IBD, emphasizing the importance of tailored interventions.

Conclusion

This case underscores the clinical significance of AIHA as an EIM of ulcerative colitis (UC), particularly when presenting as the primary symptom. Timely recognition is paramount to optimizing patient outcomes and preventing disease progression. Further research is warranted to elucidate the underlying mechanisms and therapeutic strategies for AIHA in the context of UC.

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Introduction

Autoimmune hemolytic anemia (AIHA) can rarely be seen as an extra-intestinal manifestation (EIM) of inflammatory bowel disease (IBD), mostly ulcerative colitis (UC). This case report describes the clinical significance of recognizing AIHA in the context of UC.

Case Presentation

A 32-year-old male presented with profound fatigue, pallor, and dyspnea on exertion for one month. He also recalled intermittent bloody diarrhea for two years for which he never sought medical attention. Physical examination was unremarkable except for mid-abdominal tenderness. Labs revealed microcytosis, hemoglobin of 3.8 g/dL, total bilirubin 2.9 mg/ dL, indirect bilirubin of 2.0 mg/dL, LDH 132 U/L alk-p 459 U/L AST 98 U/L ALT 22 U/L. Direct Coombs test was positive suggesting warm AIHA with pan-agglutinin positive on the eluate test. Further testing revealed negative hepatitis and HIV panels and positive fecal calprotectin. CT abdomen and pelvis showed ascites, right pleural effusion and hepatosplenomegaly. Colonoscopy confirmed the diagnosis of ulcerative colitis, with extensive involvement of the colon. Mesalamine was initiated. Hematology was consulted for AIHA, who started the patient on methylprednisone leading to resolution of hemolytic anemia and improvement in gastrointestinal symptoms.

Discussion

IBD typically manifests as colitis, and the incidence of EIM as an initial symptom is observed in less than 10% cases. However, over the course of their lifetime, approximately 25% of patients will experience EIM, underscoring their relevance to clinical outcomes. Anemia is very common in IBD patients, mostly iron deficiency anemia (IDA) or anemia of chronic disease (ACD). However, AIHA can represent a rare but significant EIM of ulcerative colitis (UC), often posing diagnostic challenges. The underlying pathophysiological mechanisms linking UC and AIHA remain incompletely understood, necessitating a multidisciplinary approach to management. Treatment strategies focus on controlling both the hemolysis and the underlying IBD, emphasizing the importance of tailored interventions.

Conclusion

This case underscores the clinical significance of AIHA as an EIM of ulcerative colitis (UC), particularly when presenting as the primary symptom. Timely recognition is paramount to optimizing patient outcomes and preventing disease progression. Further research is warranted to elucidate the underlying mechanisms and therapeutic strategies for AIHA in the context of UC.

Introduction

Autoimmune hemolytic anemia (AIHA) can rarely be seen as an extra-intestinal manifestation (EIM) of inflammatory bowel disease (IBD), mostly ulcerative colitis (UC). This case report describes the clinical significance of recognizing AIHA in the context of UC.

Case Presentation

A 32-year-old male presented with profound fatigue, pallor, and dyspnea on exertion for one month. He also recalled intermittent bloody diarrhea for two years for which he never sought medical attention. Physical examination was unremarkable except for mid-abdominal tenderness. Labs revealed microcytosis, hemoglobin of 3.8 g/dL, total bilirubin 2.9 mg/ dL, indirect bilirubin of 2.0 mg/dL, LDH 132 U/L alk-p 459 U/L AST 98 U/L ALT 22 U/L. Direct Coombs test was positive suggesting warm AIHA with pan-agglutinin positive on the eluate test. Further testing revealed negative hepatitis and HIV panels and positive fecal calprotectin. CT abdomen and pelvis showed ascites, right pleural effusion and hepatosplenomegaly. Colonoscopy confirmed the diagnosis of ulcerative colitis, with extensive involvement of the colon. Mesalamine was initiated. Hematology was consulted for AIHA, who started the patient on methylprednisone leading to resolution of hemolytic anemia and improvement in gastrointestinal symptoms.

Discussion

IBD typically manifests as colitis, and the incidence of EIM as an initial symptom is observed in less than 10% cases. However, over the course of their lifetime, approximately 25% of patients will experience EIM, underscoring their relevance to clinical outcomes. Anemia is very common in IBD patients, mostly iron deficiency anemia (IDA) or anemia of chronic disease (ACD). However, AIHA can represent a rare but significant EIM of ulcerative colitis (UC), often posing diagnostic challenges. The underlying pathophysiological mechanisms linking UC and AIHA remain incompletely understood, necessitating a multidisciplinary approach to management. Treatment strategies focus on controlling both the hemolysis and the underlying IBD, emphasizing the importance of tailored interventions.

Conclusion

This case underscores the clinical significance of AIHA as an EIM of ulcerative colitis (UC), particularly when presenting as the primary symptom. Timely recognition is paramount to optimizing patient outcomes and preventing disease progression. Further research is warranted to elucidate the underlying mechanisms and therapeutic strategies for AIHA in the context of UC.

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Recent Incidence and Survival Trends in Pancreatic Cancer at Young Age (<50 Years)

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Background

Pancreatic cancer stands as a prominent contributor to cancer-related mortality in the United States. In this abstract, we reviewed the SEER database to uncover the latest trends in pancreatic cancer among individuals diagnosed under the age of 50.

Methods

Information was obtained from the SEER database November 2023 which covers 22 national cancer registries. Only patients with age < 50 years were included. Age adjusted incidence and 5-year relative survival were compared between different ethnic groups.

Results

We identified 124691 patients with pancreatic cancer diagnosed between 2017-2021, among them 6477 were with age less than 50 years at the time of diagnosis. 3074 were male and 3403 were male. Age adjusted incidence rate was 1.2/100,000 in females and 1.4/100,000 in males. Overall, Average Annual Percent Change (AAPC) of 2.6% (95% CI: 1.9 – 4.3) was noticed between 2017-2021 when compared to previously reported rates. AAPC among different ethnic groups were Hispanics, any race: 5.3% (CI: 4-7.5), Non-Hispanic American Indian/Alaska Native: 1.1 (CI: -2.7-5.1), Non-Hispanic Asian/Pacific Islander: 1.9 (CI: 1.1-2.9), Non-Hispanic Black: 1.0 (CI: 0.3-1.7), and Non-Hispanic White: 1.6 (CI: 1.1-2.1). Stage 4 was the most common stage. Overall, the 5-year relative survival from 2014- 2020 was 37.4% (CI: 36.1-38.7). 5-year relative survival among ethnic groups from 2014-2020 were: Hispanics, any race: 40.3% (CI: 37.6-43.0), Non-Hispanic American Indian/Alaska Native: 21.4 (CI: 8.5-38.2), Non-Hispanic Asian/Pacific Islander: 40.2 (CI: 35.7-44.7), Non-Hispanic Black: 33.1 (CI: 29.9-36.3), and Non-Hispanic White: 36.6 (CI: 34.8-38.4).

Conclusions

Our analysis reveals a rise in the ageadjusted incidence of pancreatic cancer among younger demographics. Particularly noteworthy is the sharp increase observed over the past five years among Hispanics when compared to other ethnic populations. This rise is observed in both males and females. Further studies need to be done to study the risk factors associated with this increase in trend of pancreatic cancer at young age specifically in Hispanic population.

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Background

Pancreatic cancer stands as a prominent contributor to cancer-related mortality in the United States. In this abstract, we reviewed the SEER database to uncover the latest trends in pancreatic cancer among individuals diagnosed under the age of 50.

Methods

Information was obtained from the SEER database November 2023 which covers 22 national cancer registries. Only patients with age < 50 years were included. Age adjusted incidence and 5-year relative survival were compared between different ethnic groups.

Results

We identified 124691 patients with pancreatic cancer diagnosed between 2017-2021, among them 6477 were with age less than 50 years at the time of diagnosis. 3074 were male and 3403 were male. Age adjusted incidence rate was 1.2/100,000 in females and 1.4/100,000 in males. Overall, Average Annual Percent Change (AAPC) of 2.6% (95% CI: 1.9 – 4.3) was noticed between 2017-2021 when compared to previously reported rates. AAPC among different ethnic groups were Hispanics, any race: 5.3% (CI: 4-7.5), Non-Hispanic American Indian/Alaska Native: 1.1 (CI: -2.7-5.1), Non-Hispanic Asian/Pacific Islander: 1.9 (CI: 1.1-2.9), Non-Hispanic Black: 1.0 (CI: 0.3-1.7), and Non-Hispanic White: 1.6 (CI: 1.1-2.1). Stage 4 was the most common stage. Overall, the 5-year relative survival from 2014- 2020 was 37.4% (CI: 36.1-38.7). 5-year relative survival among ethnic groups from 2014-2020 were: Hispanics, any race: 40.3% (CI: 37.6-43.0), Non-Hispanic American Indian/Alaska Native: 21.4 (CI: 8.5-38.2), Non-Hispanic Asian/Pacific Islander: 40.2 (CI: 35.7-44.7), Non-Hispanic Black: 33.1 (CI: 29.9-36.3), and Non-Hispanic White: 36.6 (CI: 34.8-38.4).

Conclusions

Our analysis reveals a rise in the ageadjusted incidence of pancreatic cancer among younger demographics. Particularly noteworthy is the sharp increase observed over the past five years among Hispanics when compared to other ethnic populations. This rise is observed in both males and females. Further studies need to be done to study the risk factors associated with this increase in trend of pancreatic cancer at young age specifically in Hispanic population.

Background

Pancreatic cancer stands as a prominent contributor to cancer-related mortality in the United States. In this abstract, we reviewed the SEER database to uncover the latest trends in pancreatic cancer among individuals diagnosed under the age of 50.

Methods

Information was obtained from the SEER database November 2023 which covers 22 national cancer registries. Only patients with age < 50 years were included. Age adjusted incidence and 5-year relative survival were compared between different ethnic groups.

Results

We identified 124691 patients with pancreatic cancer diagnosed between 2017-2021, among them 6477 were with age less than 50 years at the time of diagnosis. 3074 were male and 3403 were male. Age adjusted incidence rate was 1.2/100,000 in females and 1.4/100,000 in males. Overall, Average Annual Percent Change (AAPC) of 2.6% (95% CI: 1.9 – 4.3) was noticed between 2017-2021 when compared to previously reported rates. AAPC among different ethnic groups were Hispanics, any race: 5.3% (CI: 4-7.5), Non-Hispanic American Indian/Alaska Native: 1.1 (CI: -2.7-5.1), Non-Hispanic Asian/Pacific Islander: 1.9 (CI: 1.1-2.9), Non-Hispanic Black: 1.0 (CI: 0.3-1.7), and Non-Hispanic White: 1.6 (CI: 1.1-2.1). Stage 4 was the most common stage. Overall, the 5-year relative survival from 2014- 2020 was 37.4% (CI: 36.1-38.7). 5-year relative survival among ethnic groups from 2014-2020 were: Hispanics, any race: 40.3% (CI: 37.6-43.0), Non-Hispanic American Indian/Alaska Native: 21.4 (CI: 8.5-38.2), Non-Hispanic Asian/Pacific Islander: 40.2 (CI: 35.7-44.7), Non-Hispanic Black: 33.1 (CI: 29.9-36.3), and Non-Hispanic White: 36.6 (CI: 34.8-38.4).

Conclusions

Our analysis reveals a rise in the ageadjusted incidence of pancreatic cancer among younger demographics. Particularly noteworthy is the sharp increase observed over the past five years among Hispanics when compared to other ethnic populations. This rise is observed in both males and females. Further studies need to be done to study the risk factors associated with this increase in trend of pancreatic cancer at young age specifically in Hispanic population.

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Laterality in Renal Cancer: Effect on Survival in Veteran Population

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Background

Kidney and renal pelvis cancers (KC) represent 4% of new cancer cases in the US. Although it is a common cancer, there is no data to compare the effect of laterality on survival in veteran population. In this abstract, we attempt to bridge this gap and compare the effect of laterality on survival.

Methods

We obtained data from Albany VA (VAMC) for patients diagnosed with KC between 2010-2020. Data were analyzed for age, stage at diagnosis, histopathological type, laterality of tumor, and 6,12 and 60-months survival after the diagnosis and performed a comparison of overall survival of left versus rightsided cancer by calculating odds ratio using logistic regression, significance level was established at p< 0.05.

Results

We reviewed 130 patients diagnosed with KC at VAMC. 62 had right-sided, 62 had left-sided, and 6 had bilateral cancer. Clear cell (40.8%) was predominant type. Other less common histopathological types include Papillary RCC, mixed, papillary urothelial and transitional types. 58 patients had stage 1 (28 right versus 30 left), 8 had stage 2 (5 versus 3), 29 had stage 3 (13 versus 16), 16 with stage 4 (12 versus 4), and 14 had stage 0 (papillary-urothelial). 59.2% patients underwent surgical treatment after diagnosis (R=35, L=39). At 6-months, 60 patients (96.8%) with left-sided and 53 (85.5%) with right-sided cancer survived. The odds of surviving 6-months were 12% higher (95% CI: 1.014, 1.236; p=0.03) in left versus right-sided cancer. For 1-year survival, the results were similar. 111 patients completed a 5-year follow-up and there was no evidence to support a difference in survival between cohorts at 5-years: OR (95% CI: 0.88, 1.47; p=0.32).

Conclusions

In this study, we discovered that leftsided cancer showed better survival at 6-months and 1-year compared to right-sided cancer, but 5-year survival rates appeared similar irrespective of laterality of cancer. Both subgroups had similar distribution for baseline characteristics with majority of patients being males, older than 60 years, with stage 1 disease. Further studies in larger populations with wider distribution of baseline characteristics are needed to establish clear role of laterality as a prognostic factor.

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Background

Kidney and renal pelvis cancers (KC) represent 4% of new cancer cases in the US. Although it is a common cancer, there is no data to compare the effect of laterality on survival in veteran population. In this abstract, we attempt to bridge this gap and compare the effect of laterality on survival.

Methods

We obtained data from Albany VA (VAMC) for patients diagnosed with KC between 2010-2020. Data were analyzed for age, stage at diagnosis, histopathological type, laterality of tumor, and 6,12 and 60-months survival after the diagnosis and performed a comparison of overall survival of left versus rightsided cancer by calculating odds ratio using logistic regression, significance level was established at p< 0.05.

Results

We reviewed 130 patients diagnosed with KC at VAMC. 62 had right-sided, 62 had left-sided, and 6 had bilateral cancer. Clear cell (40.8%) was predominant type. Other less common histopathological types include Papillary RCC, mixed, papillary urothelial and transitional types. 58 patients had stage 1 (28 right versus 30 left), 8 had stage 2 (5 versus 3), 29 had stage 3 (13 versus 16), 16 with stage 4 (12 versus 4), and 14 had stage 0 (papillary-urothelial). 59.2% patients underwent surgical treatment after diagnosis (R=35, L=39). At 6-months, 60 patients (96.8%) with left-sided and 53 (85.5%) with right-sided cancer survived. The odds of surviving 6-months were 12% higher (95% CI: 1.014, 1.236; p=0.03) in left versus right-sided cancer. For 1-year survival, the results were similar. 111 patients completed a 5-year follow-up and there was no evidence to support a difference in survival between cohorts at 5-years: OR (95% CI: 0.88, 1.47; p=0.32).

Conclusions

In this study, we discovered that leftsided cancer showed better survival at 6-months and 1-year compared to right-sided cancer, but 5-year survival rates appeared similar irrespective of laterality of cancer. Both subgroups had similar distribution for baseline characteristics with majority of patients being males, older than 60 years, with stage 1 disease. Further studies in larger populations with wider distribution of baseline characteristics are needed to establish clear role of laterality as a prognostic factor.

Background

Kidney and renal pelvis cancers (KC) represent 4% of new cancer cases in the US. Although it is a common cancer, there is no data to compare the effect of laterality on survival in veteran population. In this abstract, we attempt to bridge this gap and compare the effect of laterality on survival.

Methods

We obtained data from Albany VA (VAMC) for patients diagnosed with KC between 2010-2020. Data were analyzed for age, stage at diagnosis, histopathological type, laterality of tumor, and 6,12 and 60-months survival after the diagnosis and performed a comparison of overall survival of left versus rightsided cancer by calculating odds ratio using logistic regression, significance level was established at p< 0.05.

Results

We reviewed 130 patients diagnosed with KC at VAMC. 62 had right-sided, 62 had left-sided, and 6 had bilateral cancer. Clear cell (40.8%) was predominant type. Other less common histopathological types include Papillary RCC, mixed, papillary urothelial and transitional types. 58 patients had stage 1 (28 right versus 30 left), 8 had stage 2 (5 versus 3), 29 had stage 3 (13 versus 16), 16 with stage 4 (12 versus 4), and 14 had stage 0 (papillary-urothelial). 59.2% patients underwent surgical treatment after diagnosis (R=35, L=39). At 6-months, 60 patients (96.8%) with left-sided and 53 (85.5%) with right-sided cancer survived. The odds of surviving 6-months were 12% higher (95% CI: 1.014, 1.236; p=0.03) in left versus right-sided cancer. For 1-year survival, the results were similar. 111 patients completed a 5-year follow-up and there was no evidence to support a difference in survival between cohorts at 5-years: OR (95% CI: 0.88, 1.47; p=0.32).

Conclusions

In this study, we discovered that leftsided cancer showed better survival at 6-months and 1-year compared to right-sided cancer, but 5-year survival rates appeared similar irrespective of laterality of cancer. Both subgroups had similar distribution for baseline characteristics with majority of patients being males, older than 60 years, with stage 1 disease. Further studies in larger populations with wider distribution of baseline characteristics are needed to establish clear role of laterality as a prognostic factor.

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Identifying Barriers in Germline Genetic Testing Referrals for Breast Cancer: A Single-Center Experience

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Background

Purpose: to review the number of genetic testing referrals for breast cancer at the Stratton VA Medical Center and identify barriers that hinder testing, aiming to improve risk reduction strategies and therapeutic options for patients. National guidelines recommend genetic testing for breast cancer susceptibility genes in specific patient populations, such as those under 50, those with a high-risk family history, high-risk pathology, male breast cancer, or Ashkenazi Jewish ancestry. Despite efforts to adhere to these guidelines, several barriers persist that limit testing rates among eligible patients.

Methods

The medical oncology team selected breast cancer as the focus for reviewing adherence to germline genetic testing referrals in the Stratton VA Medical Center. With assistance from cancer registrars, a list of genetics referrals for breast cancer from January to December 2023 was compiled. Descriptive analysis was conducted to assess referral rates, evaluation visit completion rates, genetic testing outcomes, and reasons for non-completion of genetic testing.

Results

During the study period, 32 patients were referred for germline genetic testing for breast cancer. Of these, 26 (81%) completed the evaluation visit, and 11 (34%) underwent genetic testing. Of these, 7 patients had noteworthy results, and 2 patients (6%) were found to carry pathogenic variants: BRCA2 and CDH1. Reasons for non-completion included perceived irrelevance without biological children, need for additional time to consider testing, fear of exacerbating self-harm thoughts, and fear of losing service connection. Additionally, 2 patients did not meet the guidelines for testing per genetic counselor.

Conclusions

This project marks the initial step in identifying barriers to germline genetic testing for breast cancer based on an extensive review of patients diagnosed and treated at a single VA site. Despite the removal of the service connection clause from the consent form, some veterans still declined testing due to fear of losing their service connection. The findings emphasize the importance of educating providers on counseling techniques and education of veterans to enhance risk reduction strategies and patient care. Further research is essential to quantify the real-world outcomes and longterm impacts of improving genetic counseling rates on patient management and outcomes.

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Background

Purpose: to review the number of genetic testing referrals for breast cancer at the Stratton VA Medical Center and identify barriers that hinder testing, aiming to improve risk reduction strategies and therapeutic options for patients. National guidelines recommend genetic testing for breast cancer susceptibility genes in specific patient populations, such as those under 50, those with a high-risk family history, high-risk pathology, male breast cancer, or Ashkenazi Jewish ancestry. Despite efforts to adhere to these guidelines, several barriers persist that limit testing rates among eligible patients.

Methods

The medical oncology team selected breast cancer as the focus for reviewing adherence to germline genetic testing referrals in the Stratton VA Medical Center. With assistance from cancer registrars, a list of genetics referrals for breast cancer from January to December 2023 was compiled. Descriptive analysis was conducted to assess referral rates, evaluation visit completion rates, genetic testing outcomes, and reasons for non-completion of genetic testing.

Results

During the study period, 32 patients were referred for germline genetic testing for breast cancer. Of these, 26 (81%) completed the evaluation visit, and 11 (34%) underwent genetic testing. Of these, 7 patients had noteworthy results, and 2 patients (6%) were found to carry pathogenic variants: BRCA2 and CDH1. Reasons for non-completion included perceived irrelevance without biological children, need for additional time to consider testing, fear of exacerbating self-harm thoughts, and fear of losing service connection. Additionally, 2 patients did not meet the guidelines for testing per genetic counselor.

Conclusions

This project marks the initial step in identifying barriers to germline genetic testing for breast cancer based on an extensive review of patients diagnosed and treated at a single VA site. Despite the removal of the service connection clause from the consent form, some veterans still declined testing due to fear of losing their service connection. The findings emphasize the importance of educating providers on counseling techniques and education of veterans to enhance risk reduction strategies and patient care. Further research is essential to quantify the real-world outcomes and longterm impacts of improving genetic counseling rates on patient management and outcomes.

Background

Purpose: to review the number of genetic testing referrals for breast cancer at the Stratton VA Medical Center and identify barriers that hinder testing, aiming to improve risk reduction strategies and therapeutic options for patients. National guidelines recommend genetic testing for breast cancer susceptibility genes in specific patient populations, such as those under 50, those with a high-risk family history, high-risk pathology, male breast cancer, or Ashkenazi Jewish ancestry. Despite efforts to adhere to these guidelines, several barriers persist that limit testing rates among eligible patients.

Methods

The medical oncology team selected breast cancer as the focus for reviewing adherence to germline genetic testing referrals in the Stratton VA Medical Center. With assistance from cancer registrars, a list of genetics referrals for breast cancer from January to December 2023 was compiled. Descriptive analysis was conducted to assess referral rates, evaluation visit completion rates, genetic testing outcomes, and reasons for non-completion of genetic testing.

Results

During the study period, 32 patients were referred for germline genetic testing for breast cancer. Of these, 26 (81%) completed the evaluation visit, and 11 (34%) underwent genetic testing. Of these, 7 patients had noteworthy results, and 2 patients (6%) were found to carry pathogenic variants: BRCA2 and CDH1. Reasons for non-completion included perceived irrelevance without biological children, need for additional time to consider testing, fear of exacerbating self-harm thoughts, and fear of losing service connection. Additionally, 2 patients did not meet the guidelines for testing per genetic counselor.

Conclusions

This project marks the initial step in identifying barriers to germline genetic testing for breast cancer based on an extensive review of patients diagnosed and treated at a single VA site. Despite the removal of the service connection clause from the consent form, some veterans still declined testing due to fear of losing their service connection. The findings emphasize the importance of educating providers on counseling techniques and education of veterans to enhance risk reduction strategies and patient care. Further research is essential to quantify the real-world outcomes and longterm impacts of improving genetic counseling rates on patient management and outcomes.

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Asynchronous Bilateral Breast Cancer in a Male Patient

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Background

Bilateral male breast cancer remains a rare occurrence with limited representation in published literature. Here we present a case of an 82-yearold male with asynchronous bilateral breast cancer.

Case Presentation

Our patient is an 82-year-old male past smoker initially diagnosed with left T1aN0M0 invasive lobular carcinoma in 2010 that was ER, PR positive and HER2 negative. He underwent a left mastectomy with sentinel node biopsy and was given tamoxifen therapy for 10 years. In 2020, the patient was also diagnosed with lung squamous cell carcinoma and was treated with stereotactic body radiotherapy. In September 2023, he started noticing discharge from his right nipple. A PET CT scan revealed hyper-metabolic activity in the bilateral upper lung lobes and slightly increased activity in the right breast. A biopsy of the left upper lobe showed atypical cells. He also underwent a right breast mastectomy and sentinel lymph node biopsy which showed grade 1-2 ductal carcinoma in situ and negative sentinel lymph nodes. The tumor board recommended no further treatment after his mastectomy and genetic testing which is currently pending.

Discussion

Male breast cancer comprises just 1% of breast cancer cases, with asynchronous bilateral occurrences being exceedingly rare. A review of PubMed literature yielded only 2 documented case reports. Male breast cancer usually diagnosed around ages 60 to 70 years. The predominant histopathological diagnosis is invasive ductal adenocarcinoma that more frequently expresses ER/PR over HER2. It often manifests as a painless lump, frequently diagnosed at an advanced stage, possibly due to factors such as lower screening rates in males and less breast parenchyma. Local treatment options include surgery and radiotherapy. Neoadjuvant tamoxifen therapy is appropriate for ER and PR expressing cancers and chemotherapy can be used for non-hormone expressing or metastatic tumors. Given its rarity, management and diagnostic strategies for male breast cancer are often adapted from research on female breast cancer

Conclusions

Our case is of a relatively uncommon incident of asynchronous bilateral male breast cancer, emphasizing the need for expanded research efforts in male breast cancer. An enhanced understanding could lead to improved diagnosis and management strategies, potentially enhancing survival outcomes.

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Background

Bilateral male breast cancer remains a rare occurrence with limited representation in published literature. Here we present a case of an 82-yearold male with asynchronous bilateral breast cancer.

Case Presentation

Our patient is an 82-year-old male past smoker initially diagnosed with left T1aN0M0 invasive lobular carcinoma in 2010 that was ER, PR positive and HER2 negative. He underwent a left mastectomy with sentinel node biopsy and was given tamoxifen therapy for 10 years. In 2020, the patient was also diagnosed with lung squamous cell carcinoma and was treated with stereotactic body radiotherapy. In September 2023, he started noticing discharge from his right nipple. A PET CT scan revealed hyper-metabolic activity in the bilateral upper lung lobes and slightly increased activity in the right breast. A biopsy of the left upper lobe showed atypical cells. He also underwent a right breast mastectomy and sentinel lymph node biopsy which showed grade 1-2 ductal carcinoma in situ and negative sentinel lymph nodes. The tumor board recommended no further treatment after his mastectomy and genetic testing which is currently pending.

Discussion

Male breast cancer comprises just 1% of breast cancer cases, with asynchronous bilateral occurrences being exceedingly rare. A review of PubMed literature yielded only 2 documented case reports. Male breast cancer usually diagnosed around ages 60 to 70 years. The predominant histopathological diagnosis is invasive ductal adenocarcinoma that more frequently expresses ER/PR over HER2. It often manifests as a painless lump, frequently diagnosed at an advanced stage, possibly due to factors such as lower screening rates in males and less breast parenchyma. Local treatment options include surgery and radiotherapy. Neoadjuvant tamoxifen therapy is appropriate for ER and PR expressing cancers and chemotherapy can be used for non-hormone expressing or metastatic tumors. Given its rarity, management and diagnostic strategies for male breast cancer are often adapted from research on female breast cancer

Conclusions

Our case is of a relatively uncommon incident of asynchronous bilateral male breast cancer, emphasizing the need for expanded research efforts in male breast cancer. An enhanced understanding could lead to improved diagnosis and management strategies, potentially enhancing survival outcomes.

Background

Bilateral male breast cancer remains a rare occurrence with limited representation in published literature. Here we present a case of an 82-yearold male with asynchronous bilateral breast cancer.

Case Presentation

Our patient is an 82-year-old male past smoker initially diagnosed with left T1aN0M0 invasive lobular carcinoma in 2010 that was ER, PR positive and HER2 negative. He underwent a left mastectomy with sentinel node biopsy and was given tamoxifen therapy for 10 years. In 2020, the patient was also diagnosed with lung squamous cell carcinoma and was treated with stereotactic body radiotherapy. In September 2023, he started noticing discharge from his right nipple. A PET CT scan revealed hyper-metabolic activity in the bilateral upper lung lobes and slightly increased activity in the right breast. A biopsy of the left upper lobe showed atypical cells. He also underwent a right breast mastectomy and sentinel lymph node biopsy which showed grade 1-2 ductal carcinoma in situ and negative sentinel lymph nodes. The tumor board recommended no further treatment after his mastectomy and genetic testing which is currently pending.

Discussion

Male breast cancer comprises just 1% of breast cancer cases, with asynchronous bilateral occurrences being exceedingly rare. A review of PubMed literature yielded only 2 documented case reports. Male breast cancer usually diagnosed around ages 60 to 70 years. The predominant histopathological diagnosis is invasive ductal adenocarcinoma that more frequently expresses ER/PR over HER2. It often manifests as a painless lump, frequently diagnosed at an advanced stage, possibly due to factors such as lower screening rates in males and less breast parenchyma. Local treatment options include surgery and radiotherapy. Neoadjuvant tamoxifen therapy is appropriate for ER and PR expressing cancers and chemotherapy can be used for non-hormone expressing or metastatic tumors. Given its rarity, management and diagnostic strategies for male breast cancer are often adapted from research on female breast cancer

Conclusions

Our case is of a relatively uncommon incident of asynchronous bilateral male breast cancer, emphasizing the need for expanded research efforts in male breast cancer. An enhanced understanding could lead to improved diagnosis and management strategies, potentially enhancing survival outcomes.

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Metastatic Prostate Cancer Presenting as Pleural and Pericardial Metastases: A Case Report and Literature Review

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Background

Metastatic prostate cancer typically manifests with metastases to the lungs, bones, and adrenal glands. Here, we report a unique case where the initial presentation involved pleural nodules, subsequently leading to the discovery of pleural and pericardial metastases. 

Case Presentation

Our patient, a 73-year-old male with a history of active tobacco use disorder, COPD, and right shoulder melanoma (2004), initially presented to his primary care physician for a routine visit. Following a Low Dose Chest CT scan (LDCT), numerous new pleural nodules were identified. Physical examination revealed small nevi and skin tags, but no malignant characteristics. Initial concerns centered on the potential recurrence of malignant melanoma with pleural metastases or an inflammatory condition. Subsequent PET scan results raised significant suspicion of malignancy. PSA was 2.41. Pleuroscopy biopsies revealed invasive nonsmall cell carcinoma, positive for NKX31 and MOC31, but negative for S100, PSA, and synaptophysin. This pattern strongly suggests metastatic prostate cancer despite the absence of PSA staining. (Stage IV B: cTxcN1cM1c). A subsequent PSMA PET highlighted extensive metastatic involvement in the pericardium, posterior and mediastinal pleura, mediastinum, and ribs. Treatment commenced with Degarelix followed by the standard regimen of Docetaxel, Abiraterone, and prednisone. Genetic counseling and palliative care services were additionally recommended.

Discussion

Prostate cancer typically spreads to bones, lungs, liver, and adrenal glands. Rarely, it appears in sites like pericardium and pleura. Pleural metastases are usually found postmortem; clinical diagnosis is rare. Pericardial metastases are exceptionally uncommon, with few documented cases. The precise mechanism of metastatic dissemination remains uncertain, with theories suggesting spread through the vertebral-venous plexus or via the vena cava to distant organs. Treatment approaches vary based on symptomatic effusions, ranging from pericardiocentesis, thoracocentesis to chemotherapy, radiotherapy, and hormone therapy. Studies have shown systemic docetaxel to be effective in managing pleural and pericardial symptoms. Despite their rarity, healthcare providers should consider these possibilities when encountering pleural thickening or pericardial abnormalities on imaging studies.

Conclusions

Pleural and pericardial metastases represent uncommon occurrences in prostate cancer. Continued research efforts can facilitate early detection of metastatic disease, enabling more effective and precisely targeted management strategies when symptoms manifest.

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Background

Metastatic prostate cancer typically manifests with metastases to the lungs, bones, and adrenal glands. Here, we report a unique case where the initial presentation involved pleural nodules, subsequently leading to the discovery of pleural and pericardial metastases. 

Case Presentation

Our patient, a 73-year-old male with a history of active tobacco use disorder, COPD, and right shoulder melanoma (2004), initially presented to his primary care physician for a routine visit. Following a Low Dose Chest CT scan (LDCT), numerous new pleural nodules were identified. Physical examination revealed small nevi and skin tags, but no malignant characteristics. Initial concerns centered on the potential recurrence of malignant melanoma with pleural metastases or an inflammatory condition. Subsequent PET scan results raised significant suspicion of malignancy. PSA was 2.41. Pleuroscopy biopsies revealed invasive nonsmall cell carcinoma, positive for NKX31 and MOC31, but negative for S100, PSA, and synaptophysin. This pattern strongly suggests metastatic prostate cancer despite the absence of PSA staining. (Stage IV B: cTxcN1cM1c). A subsequent PSMA PET highlighted extensive metastatic involvement in the pericardium, posterior and mediastinal pleura, mediastinum, and ribs. Treatment commenced with Degarelix followed by the standard regimen of Docetaxel, Abiraterone, and prednisone. Genetic counseling and palliative care services were additionally recommended.

Discussion

Prostate cancer typically spreads to bones, lungs, liver, and adrenal glands. Rarely, it appears in sites like pericardium and pleura. Pleural metastases are usually found postmortem; clinical diagnosis is rare. Pericardial metastases are exceptionally uncommon, with few documented cases. The precise mechanism of metastatic dissemination remains uncertain, with theories suggesting spread through the vertebral-venous plexus or via the vena cava to distant organs. Treatment approaches vary based on symptomatic effusions, ranging from pericardiocentesis, thoracocentesis to chemotherapy, radiotherapy, and hormone therapy. Studies have shown systemic docetaxel to be effective in managing pleural and pericardial symptoms. Despite their rarity, healthcare providers should consider these possibilities when encountering pleural thickening or pericardial abnormalities on imaging studies.

Conclusions

Pleural and pericardial metastases represent uncommon occurrences in prostate cancer. Continued research efforts can facilitate early detection of metastatic disease, enabling more effective and precisely targeted management strategies when symptoms manifest.

Background

Metastatic prostate cancer typically manifests with metastases to the lungs, bones, and adrenal glands. Here, we report a unique case where the initial presentation involved pleural nodules, subsequently leading to the discovery of pleural and pericardial metastases. 

Case Presentation

Our patient, a 73-year-old male with a history of active tobacco use disorder, COPD, and right shoulder melanoma (2004), initially presented to his primary care physician for a routine visit. Following a Low Dose Chest CT scan (LDCT), numerous new pleural nodules were identified. Physical examination revealed small nevi and skin tags, but no malignant characteristics. Initial concerns centered on the potential recurrence of malignant melanoma with pleural metastases or an inflammatory condition. Subsequent PET scan results raised significant suspicion of malignancy. PSA was 2.41. Pleuroscopy biopsies revealed invasive nonsmall cell carcinoma, positive for NKX31 and MOC31, but negative for S100, PSA, and synaptophysin. This pattern strongly suggests metastatic prostate cancer despite the absence of PSA staining. (Stage IV B: cTxcN1cM1c). A subsequent PSMA PET highlighted extensive metastatic involvement in the pericardium, posterior and mediastinal pleura, mediastinum, and ribs. Treatment commenced with Degarelix followed by the standard regimen of Docetaxel, Abiraterone, and prednisone. Genetic counseling and palliative care services were additionally recommended.

Discussion

Prostate cancer typically spreads to bones, lungs, liver, and adrenal glands. Rarely, it appears in sites like pericardium and pleura. Pleural metastases are usually found postmortem; clinical diagnosis is rare. Pericardial metastases are exceptionally uncommon, with few documented cases. The precise mechanism of metastatic dissemination remains uncertain, with theories suggesting spread through the vertebral-venous plexus or via the vena cava to distant organs. Treatment approaches vary based on symptomatic effusions, ranging from pericardiocentesis, thoracocentesis to chemotherapy, radiotherapy, and hormone therapy. Studies have shown systemic docetaxel to be effective in managing pleural and pericardial symptoms. Despite their rarity, healthcare providers should consider these possibilities when encountering pleural thickening or pericardial abnormalities on imaging studies.

Conclusions

Pleural and pericardial metastases represent uncommon occurrences in prostate cancer. Continued research efforts can facilitate early detection of metastatic disease, enabling more effective and precisely targeted management strategies when symptoms manifest.

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