Rare MSI-H hepatoid adenocarcinoma of the colon with BRAF V600E mutation achieving long-term disease-free survival after adjuvant envafolimab: a case report

罕见的MSI-H型结肠肝样腺癌伴BRAF V600E突变,辅助恩伐利单抗治疗后获得长期无病生存:病例报告

阅读:2

Abstract

CASE PRESENTATION: Microsatellite instability-high (MSI-H) or mismatch repair-deficient (dMMR) colorectal cancer (CRC) is characterized by high tumor mutational burden and strong immunogenicity, making it responsive to immune checkpoint inhibitors. Hepatoid adenocarcinoma (HAC) of the colon is an exceptionally rare and aggressive subtype, often resistant to conventional chemotherapy. We report a 77-year-old woman who presented with progressive anemia and a right-sided colonic mass. She underwent laparoscopic radical right hemicolectomy, and pathology revealed hepatoid features with vascular and neural invasion. Immunohistochemistry showed loss of MLH1, PMS2, and MSH6, confirming dMMR status, and MSI testing indicated MSI-H. BRAF V600E mutation was identified, and germline testing excluded Lynch syndrome. Given her age and potential chemotherapy toxicity, she received eight cycles of adjuvant envafolimab (200 mg every 3 weeks). Over 38 months of follow-up, she remained disease-free without experiencing any grade ≥2 immune-related adverse events. CONCLUSION: This case illustrates that adjuvant PD-1 blockade can be effective and well-tolerated in elderly patients with rare MSI-H CRC subtypes, including BRAF-mutated HAC. Comprehensive molecular profiling can help guide personalized immunotherapy decisions. Further studies are needed to confirm long-term benefits, optimize treatment duration and dosing, and identify predictive biomarkers for high-risk CRC.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。