携带BRCA2胚系突变的肺癌和乙状结肠癌双原发肿瘤1例

A case report of dual primary tumors of lung cancer and sigmoid colon cancer carrying BRCA2 germline mutation

报道1例罕见的同时性肺癌和乙状结肠癌的双原发肿瘤病例。该患者具有致病性BRCA2胚系突变,经含铂双药、免疫及抗血管治疗的综合治疗4个周期后,2处病灶均达到病理完全缓解。该结果表明,综合治疗方案在处理此类双原发肿瘤病例中具有有效性,且可为未来类似病例的治疗决策的制定提供新的思路。此外,本文重点讨论了BRCA胚系突变家系患者的定期筛查及相关药物治疗疗效及前景。

This study reports a rare case of dual primary tumors of lung cancer and sigmoid colon cancer.The patient had a pathogenic BRCA2 germline mutation and achieved complete pathological remission at both primary tumor sites after four cycles of a comprehensive treatment regimen including platinum-based dual drug therapy,immunotherapy,and anti-angiogenic therapy.These results not only demonstrate the effectiveness of the comprehensive treatment regimen in managing such complex cases but also provide new insights for treatment decisions in future similar cases.Additionally,this case specifically discusses the importance of regular screening and the effectiveness and prospects of related drug treatments for patients from families with BRCA germline mutations.