Wang Xiaoyan, Zhao Chenyi, Gong Yang, Wang Ying, Guo Feng
Department of Oncology, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.
Front Oncol. 2023 Jul 14;13:1175693. doi: 10.3389/fonc.2023.1175693. eCollection 2023.
BRAF non-V600 mutations are a distinct molecular subset of colorectal cancer (CRC) that has little to no clinical similarity to the BRAF V600 mutations. It is generally considered that the BRAF non-V600 mutations correlate with better survival of CRC patients. In this report, we present an unusual case of that a midlife female patient who was initially diagnosed with stage IIIC colon cancer, and multiple metastases were found 25 months after radical surgery. Next-generation sequencing (NGS) revealed the BRAF p.N581I (c.1742A>T) mutation. She received chemotherapy, targeted therapy, and immunotherapy. However, the disease progressed rapidly with rare metastasis of the bone and cerebellum. This case highlights that the BRAF non-V600 mutations, such as BRAF p.N581I mutant, may lead to resistance to epidermal growth factor receptor (EGFR) inhibitors and result in a rapid course in colorectal cancer. The role of BRAF p.N581I mutation in colorectal cancer demands more attention.
BRAF非V600突变是结直肠癌（CRC）的一个独特分子亚群，与BRAF V600突变几乎没有临床相似性。一般认为，BRAF非V600突变与CRC患者较好的生存率相关。在本报告中，我们呈现了一例不同寻常的病例，一名中年女性患者最初被诊断为IIIC期结肠癌，根治性手术后25个月发现多处转移。二代测序（NGS）显示BRAF p.N581I（c.1742A>T）突变。她接受了化疗、靶向治疗和免疫治疗。然而，疾病进展迅速，出现了罕见的骨和小脑转移。该病例突出表明，BRAF非V600突变，如BRAF p.N581I突变体，可能导致对表皮生长因子受体（EGFR）抑制剂耐药，并导致结直肠癌病程进展迅速。BRAF p.N581I突变在结直肠癌中的作用需要更多关注。
