BRAF mutant appendiceal adenocarcinoma differs from colorectal cancer but responds to BRAF-targeted therapy
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<sup>V600E</sup> AA is not associated with poor prognosis, female sex, microsatellite instability, mucinous histology, or poor differentiation. In both cancers, BRAF<sup>V600E</sup> but not atypical BRAF mutations are mutually exclusive with other Ras-activating mutations. BRAF<sup>V600E</sup> + EGFR inhibition shows efficacy in BRAF<sup>V600E</sup> AA (disease control rate = 80%, median progression-free survival = 7.1 months).
Authors
- Michael J. Overman (ORCID: https://orcid.org/0000-0001-5377-135X)
- John Paul Shen (ORCID: https://orcid.org/0000-0003-4588-2775)
- Christine Megerdichian Parseghian (ORCID: https://orcid.org/0000-0002-2047-097X)
- Saikat Chowdhury (ORCID: https://orcid.org/0000-0002-0783-3959)
- Colin M. Court (ORCID: https://orcid.org/0000-0002-9357-8957)
- Kanwal P. S. Raghav (ORCID: https://orcid.org/0000-0003-1311-4173)
- Mahmoud Yousef (ORCID: https://orcid.org/0009-0007-2550-4837)
- Van K. Morris (ORCID: https://orcid.org/0000-0002-4911-2252)
- Emaan Haque
- Bryan K. Kee (ORCID: https://orcid.org/0000-0001-5553-2213)
- Abdelrahman Yousef (ORCID: https://orcid.org/0000-0001-7761-8149)
- Ryan W. Huey (ORCID: https://orcid.org/0000-0002-7887-8484)
- Vinay K. Pattalachinti (ORCID: https://orcid.org/0009-0007-7293-0548)
Institutions
- University of New Mexico Hospital (US)
- The University of Texas MD Anderson Cancer Center (US)
- The University of Texas at San Antonio Health Science Center (US)
Publication Details
- Journal
- npj Precision Oncology
- Published
- 2025-02-05
- DOI
- https://doi.org/10.1038/s41698-025-00821-z
- Citations
- 2
- Primary Topic
- Intraperitoneal and Appendiceal Malignancies
- Type
- article
- Field-Weighted Citation Impact
- 4.01
Funders
- Conquer Cancer Foundation
- Cancer Prevention and Research Institute of Texas
- National Cancer Institute