Urologic oncology · 2025
Prevalence of therapeutic or disease-relevant oncogenic alterations: An analysis of the AACR Project GENIE Biopharma Cooperative bladder cancer cohort.
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Hong Jin-Liern, Chen Cai, Liu Xinyue, Cristescu Razvan, Markensohn Julia, Burcu Mehmet
Аннотация
PURPOSE: This study reports the real-world prevalence of therapeutic and/or disease-relevant oncogenic alterations in cancer research, specifically in the bladder cancer cohort of the American Association for Cancer Research Project Genomics Evidence Neoplasia Information Exchange (GENIE) Biopharma Collaborative (BPC).
METHODS: The GENIE BPC bladder cancer cohort (v1.1) included adult patients with bladder cancer with genomic sequencing results reported between January 1, 2013, and December 31, 2018. The prevalence of alterations in PPARG, KRAS, TP53, FGFR3, ERBB2, ERBB3, EGFR, MET, B7-H3, and GPC3 was evaluated descriptively in the overall cohort and by stage of disease, patient demographics, and clinical characteristics.
RESULTS: The study included 716 patients. Median age at sequencing was 67.8 years; most patients were male (76.5%) and non-Hispanic White (82.0%) and had a reported history of urothelial carcinoma (96.2%). The prevalence was 54.3% (95% CI: 50.6-58.0) for TP53 mutations, 4.3% (95% CI: 3.0-6.1) for KRAS hotspot mutations, 13.4% (95% CI: 11.0-16.1) for FGFR3 activating mutations, and 12.1% (95% CI: 9.7-14.9) for any PPARG amplification. Overall, prevalence of gene alterations was similar between patients with stage I-III disease and advanced or metastatic disease and across subgroups based on patient demographics and clinical characteristics.
CONCLUSIONS: The prevalence of gene alterations is consistent with ranges reported in the literature. This analysis provides insights into the distribution of therapeutic or disease-relevant genetic biomarkers in patients with bladder cancer and helps the understanding of patient biomarker profile to support clinical development for patients with bladder cancer.
METHODS: The GENIE BPC bladder cancer cohort (v1.1) included adult patients with bladder cancer with genomic sequencing results reported between January 1, 2013, and December 31, 2018. The prevalence of alterations in PPARG, KRAS, TP53, FGFR3, ERBB2, ERBB3, EGFR, MET, B7-H3, and GPC3 was evaluated descriptively in the overall cohort and by stage of disease, patient demographics, and clinical characteristics.
RESULTS: The study included 716 patients. Median age at sequencing was 67.8 years; most patients were male (76.5%) and non-Hispanic White (82.0%) and had a reported history of urothelial carcinoma (96.2%). The prevalence was 54.3% (95% CI: 50.6-58.0) for TP53 mutations, 4.3% (95% CI: 3.0-6.1) for KRAS hotspot mutations, 13.4% (95% CI: 11.0-16.1) for FGFR3 activating mutations, and 12.1% (95% CI: 9.7-14.9) for any PPARG amplification. Overall, prevalence of gene alterations was similar between patients with stage I-III disease and advanced or metastatic disease and across subgroups based on patient demographics and clinical characteristics.
CONCLUSIONS: The prevalence of gene alterations is consistent with ranges reported in the literature. This analysis provides insights into the distribution of therapeutic or disease-relevant genetic biomarkers in patients with bladder cancer and helps the understanding of patient biomarker profile to support clinical development for patients with bladder cancer.