KRAS G12C突变合并MSI-H的转移性胰腺癌一例并文献复习

KRAS G12C Mutation Combined with MSI-H in Metastatic Pancreatic Cancer: A Case Report and Literature Review

摘要: 目的：探讨KRAS G12C突变合并高度微卫星不稳定(MSI-H)转移性胰腺癌的临床病理特征、治疗策略及预后。方法：回顾性分析1例KRAS G12C突变合并MSI-H转移性胰腺癌患者的临床资料、诊疗经过及随访结果，并结合相关文献进行复习。结果：该例46岁女性患者确诊为胰腺体尾部腺癌(cT4N1M1，IV期)，基因检测示KRAS G12C突变合并MSI-H及HRD阳性。历经AG方案联合替雷利珠单抗治疗、免疫单药维持、化疗再挑战、KRAS G12C抑制剂靶向治疗等多线治疗，截至末次随访总生存期已达18个月。结论：KRAS G12C突变合并MSI-H及HRD阳性是胰腺癌中极为罕见的分子亚型，化疗联合免疫治疗序贯KRAS G12C抑制剂靶向治疗可能为该类患者带来生存获益，精准医学指导下的个体化治疗具有重要价值。

Abstract: Objective: To investigate the clinicopathological characteristics, treatment strategies, and prognosis of metastatic pancreatic cancer with KRAS G12C mutation and high-level microsatellite instability (MSI-H). Methods: The clinical data, diagnosis and treatment course, and follow-up results of one patient with KRAS G12C mutation and MSI-H metastatic pancreatic cancer were retrospectively analyzed, and relevant literature was reviewed. Results: A 46-year-old female patient was diagnosed with adenocarcinoma of the pancreatic body and tail (cT4N1M1, stage IV). Genetic testing revealed KRAS G12C mutation and MSI-H, and HRD-positive. The patient received multiline therapies, including AG regimen combined with tislelizumab, maintenance immunotherapy, chemotherapy rechallenge, and targeted therapy with a KRAS G12C inhibitor. The overall survival had reached 18 months as of the last follow-up. Conclusion: KRAS G12C mutation combined with MSI-H and HRD-positive is an extremely rare molecular subtype in pancreatic cancer. Chemotherapy combined with immunotherapy followed by sequential targeted therapy with a KRAS G12C inhibitor may provide survival benefits for such patients. Individualized treatment guided by precision medicine is of great value.