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Background
Urothelial carcinoma (UC) is among the top 10 frequently diagnosed cancers in the world. Mutations in FGFR3, ARID1A, and TP53 are well documented as being some of the most frequent mutations found in UC. Despite advances in treatment, survival outcomes remain poor, especially in advanced stages. To promote future pharmacotherapeutic development, the molecular understanding of UC needs to be continually updated using more recently available databases.
Methods
This study utilizes the AACR Project GENIE database from the American Association for Cancer Research to explore the mutational profiles of patients with UC. Gene mutation frequencies were calculated, and two Kaplan-Meier curves were drawn for each gene, showing one curve for patients with the mutation and one for those without. Log-Rank tests were calculated with subsequent FDR (Benjamini–Hochberg) correction applied to account for multiple hypothesis testing. Data was analyzed using R 4.4.2 and statistical significance was set at α = 0.05.
Results
In this study, 4525 patients had histology consistent with UC. The 5 most common mutations were TERT (n = 1714, 37.9%), TP53 (n = 1689, 37.3%), KDM6A (n = 1091, 24.1%), ARID1A (n = 872, 19.3%), and FGFR3 (n = 762, 16.8%). Mutations associated with differential survival outcomes included ERCC2 (mutated n = 387, wild type n = 3751, p < 0.0001), KDM6A (mutated n = 1091, wild type n = 3047, p < 0.0001), TERT (mutated n = 1714, wild type n = 2424), and TP53 (mutated n = 1689, wild type n = 2449, p < 0.0001).
Conclusions
Interestingly, while mutations in TP53 and ERCC2 were associated with shorter median survival, mutations in KDM6A and TERT were associated with longer median survival.
Background
Urothelial carcinoma (UC) is among the top 10 frequently diagnosed cancers in the world. Mutations in FGFR3, ARID1A, and TP53 are well documented as being some of the most frequent mutations found in UC. Despite advances in treatment, survival outcomes remain poor, especially in advanced stages. To promote future pharmacotherapeutic development, the molecular understanding of UC needs to be continually updated using more recently available databases.
Methods
This study utilizes the AACR Project GENIE database from the American Association for Cancer Research to explore the mutational profiles of patients with UC. Gene mutation frequencies were calculated, and two Kaplan-Meier curves were drawn for each gene, showing one curve for patients with the mutation and one for those without. Log-Rank tests were calculated with subsequent FDR (Benjamini–Hochberg) correction applied to account for multiple hypothesis testing. Data was analyzed using R 4.4.2 and statistical significance was set at α = 0.05.
Results
In this study, 4525 patients had histology consistent with UC. The 5 most common mutations were TERT (n = 1714, 37.9%), TP53 (n = 1689, 37.3%), KDM6A (n = 1091, 24.1%), ARID1A (n = 872, 19.3%), and FGFR3 (n = 762, 16.8%). Mutations associated with differential survival outcomes included ERCC2 (mutated n = 387, wild type n = 3751, p < 0.0001), KDM6A (mutated n = 1091, wild type n = 3047, p < 0.0001), TERT (mutated n = 1714, wild type n = 2424), and TP53 (mutated n = 1689, wild type n = 2449, p < 0.0001).
Conclusions
Interestingly, while mutations in TP53 and ERCC2 were associated with shorter median survival, mutations in KDM6A and TERT were associated with longer median survival.
Background
Urothelial carcinoma (UC) is among the top 10 frequently diagnosed cancers in the world. Mutations in FGFR3, ARID1A, and TP53 are well documented as being some of the most frequent mutations found in UC. Despite advances in treatment, survival outcomes remain poor, especially in advanced stages. To promote future pharmacotherapeutic development, the molecular understanding of UC needs to be continually updated using more recently available databases.
Methods
This study utilizes the AACR Project GENIE database from the American Association for Cancer Research to explore the mutational profiles of patients with UC. Gene mutation frequencies were calculated, and two Kaplan-Meier curves were drawn for each gene, showing one curve for patients with the mutation and one for those without. Log-Rank tests were calculated with subsequent FDR (Benjamini–Hochberg) correction applied to account for multiple hypothesis testing. Data was analyzed using R 4.4.2 and statistical significance was set at α = 0.05.
Results
In this study, 4525 patients had histology consistent with UC. The 5 most common mutations were TERT (n = 1714, 37.9%), TP53 (n = 1689, 37.3%), KDM6A (n = 1091, 24.1%), ARID1A (n = 872, 19.3%), and FGFR3 (n = 762, 16.8%). Mutations associated with differential survival outcomes included ERCC2 (mutated n = 387, wild type n = 3751, p < 0.0001), KDM6A (mutated n = 1091, wild type n = 3047, p < 0.0001), TERT (mutated n = 1714, wild type n = 2424), and TP53 (mutated n = 1689, wild type n = 2449, p < 0.0001).
Conclusions
Interestingly, while mutations in TP53 and ERCC2 were associated with shorter median survival, mutations in KDM6A and TERT were associated with longer median survival.