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中华结直肠疾病电子杂志

中华结直肠疾病电子杂志 ›› 2024, Vol. 13 ›› Issue (01) : 32 -37. doi: 10.3877/cma.j.issn.2095-3224.2024.01.006

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林奇综合征相关性异时性结直肠癌的治疗
卓长华1,†(), 叶韵斌2, 陈昌江3, 简锦亮3, 王志纬3   
  1. 1. 350014　福州，福建医科大学肿瘤临床学院&福建省肿瘤医院大肠外科；350014　福州，福建省肿瘤转化医学重点实验室
    2. 350014　福州，福建省肿瘤转化医学重点实验室；350014　福州，福建医科大学肿瘤临床学院&福建省肿瘤医院肿瘤免疫学研究室
    3. 350014　福州，福建医科大学肿瘤临床学院&福建省肿瘤医院大肠外科
  • 收稿日期:2023-10-05 出版日期:2024-02-25
  • 通信作者: 卓长华
  • 基金资助:
    国家自然科学基金面上项目(No. 82372776); 福建省自然科学基金面上项目(No. 2023J011281)

Treatment of Lynch syndrome-related metachronous colorectal cancer

Changhua Zhuo1,†(), Yunbin Ye2, Changjiang Chen3, Jinliang Jian3, Zhiwei Wang3   

  1. 1. Department of Colorectal Surgery, Clinical Oncology School of Fujian Medical University, & Fujian Cancer Hospital, Fuzhou 350014, China; Fujian Key Laboratory of Translational Cancer Medicine, Fuzhou 350014, China
    2. Fujian Key Laboratory of Translational Cancer Medicine, Fuzhou 350014, China; Laboratory of Immuno-Oncology, Clinical Oncology School of Fujian Medical University & Fujian Cancer Hospital, Fuzhou 350014, China
    3. Department of Colorectal Surgery, Clinical Oncology School of Fujian Medical University, & Fujian Cancer Hospital, Fuzhou 350014, China
  • Received:2023-10-05 Published:2024-02-25
  • Corresponding author: Changhua Zhuo
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卓长华, 叶韵斌, 陈昌江, 简锦亮, 王志纬. 林奇综合征相关性异时性结直肠癌的治疗[J]. 中华结直肠疾病电子杂志, 2024, 13(01): 32-37.

Changhua Zhuo, Yunbin Ye, Changjiang Chen, Jinliang Jian, Zhiwei Wang. Treatment of Lynch syndrome-related metachronous colorectal cancer[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2024, 13(01): 32-37.

林奇综合征（LS）是一种常染色体显性遗传病，是最常见的遗传性结直肠癌综合征。LS相关性异时性结直肠癌（MCRC）是结直肠癌中的一种特殊类型，其发生风险因突变的错配修复（MMR）基因而异。节段性肠切除术可能导致MCRC累积发生风险增加。LS相关MCRC治疗仍以外科手术为主，但其具体手术范围仍存在争议，进行节段性结（直）肠切除或扩大的次全或全结（直）肠切除术，应综合考虑肿瘤位置，基因突变类型、分期、年龄、合并症和患者个人意愿等。近年来，免疫检查点抑制剂（ICIs）对局晚期或转移性的LS相关性MCRC的治疗具有积极疗效。对于LS患者，正确的随访和内镜监测及预防性治疗（包括生活方式干预、化学性药物预防、肿瘤疫苗等），可减少MCRC的发生风险。

关键词: 结直肠肿瘤, 林奇综合征, 异时性结直肠癌, 外科切除, 免疫检查点抑制剂, 免疫治疗, 肿瘤监测

Lynch syndrome (LS) is an autosomal dominant genetic disease, and is the most common hereditary colorectal cancer syndrome. LS-related metachronous colorectal cancer (MCRC) is a special type of colorectal cancer, and its risk varies depending on the mutated mismatch repair (MMR) gene. Segmental bowel resection may lead to an increased cumulative risk of MCRC. The treatment of LS-related MCRC is still dominated by surgery, but the specific scope of resection is still controversial. Whether performing segmental colorectal resection or extended subtotal or total colorectal resection, tumor location, gene mutation type, stage, age, comorbidities, and patient's personal wishes should be comprehensively considered. The recent immune checkpoint inhibitors (ICIs) have positive effects on the treatment of advanced or metastatic LS-related MCRC. For LS patients, correct follow-up, endoscopic surveillance and preventive treatment (including lifestyle intervention, chemical prevention, tumor vaccines, etc.) can reduce the risk of MCRC.

Key words: Colorectal neoplasms, Lynch syndrome, Metachronous colorectal cancer, Surgical resection, Immune checkpoint inhibitors, Immunotherapy, Tumor surveillance
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