User login
Neuroendocrine Tumor of Ampulla of Vater: A Rare Case Report and Review of Literature
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.
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.
Identifying Barriers in Germline Genetic Testing Referrals for Breast Cancer: A Single-Center Experience
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.
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.