BRAF mutant appendiceal adenocarcinoma differs from colorectal cancer but responds to BRAF-targeted therapy

• Published in: NPJ precision oncology Vol. 9; no. 1; pp. 38 - 7
• Main Authors: Pattalachinti, Vinay K., Haque, Emaan, Yousef, Mahmoud, Yousef, Abdelrahman, Chowdhury, Saikat, Overman, Michael, Parseghian, Christine M., Morris, Van K., Kee, Bryan, Huey, Ryan W., Raghav, Kanwal, Court, Colin M., Shen, John Paul
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 05.02.2025; Nature Publishing Group; Nature Portfolio
• Subjects: 631/67/1059/602; 631/67/1504/1885/1393; 631/67/68; 692/4028/67/1504/1885/1393; 692/4028/67/395; Appendix; Brief Communication; Cancer Research; Cancer therapies; Chemotherapy; Colorectal cancer; Gastrointestinal cancer; Gene Therapy; Histology; Human Genetics; Internal Medicine; Medical prognosis; Medicine; Medicine & Public Health; Mutation; Oncology; Tumors
• ISSN: 2397-768X; 2397-768X
• DOI: 10.1038/s41698-025-00821-z

Appendiceal Adenocarcinoma (AA) is a rare gastrointestinal cancer with no FDA-approved targeted therapies. Here, we retrospectively compare BRAF- mutant AA and colorectal cancer (CRC). BRAF mutation is rare in AA (3%). Unlike CRC, BRAF V600E AA is not associated with poor prognosis, female sex, microsatellite instability, mucinous histology, or poor differentiation. In both cancers, BRAF V600E but not atypical BRAF mutations are mutually exclusive with other Ras-activating mutations. BRAF V600E  + EGFR inhibition shows efficacy in BRAF V600E AA (disease control rate = 80%, median progression-free survival = 7.1 months).