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缺陷不匹配修复系统/微卫星不稳定性-高结直肠癌患者的第二次恶性瘤

Paul Franques^1,2, Pierre Moreau³, Camille Evrard^1,2

¹Medical Oncology Department, Poitiers University Hospital, Poitiers, France.

Therapeutic advances in gastroenterology

|June 23, 2025

概括

患有缺陷不匹配修复/微卫星不稳定性高 (dMMR/MSI-H) 大肠直肠癌 (CRC) 的患者患第二种原发性癌症 (APC) 的风险很高. 这种风险与林奇综合征和零星病例相似,突出了需要谨慎跟进的需要.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
癌症研究癌症研究

背景情况:

缺陷不匹配修复 (dMMR) 或微卫星不稳定性高 (MSI-H) 现型的结肠直肠癌 (CRC) 约占所有CRC的12%.
这种表型是由生殖基因突变 (林奇综合征,LS) 或MLH1的表观遗传沉默 (零星病例) 引起的.
虽然LS患者已知患有各种dMMR/MSI-H癌症的风险增加,但在零星的dMMR/MSI-HCRC中,第二种原发性癌症 (APC) 的风险知之甚少.

研究的目的:

在被诊断为dMMR/MSI-H CRC的患者中确定患另一种原发性癌症 (APC) 的风险.
为了比较林奇综合征 (LS) 和零星的dMMR/MSI-H CRC病例之间的APC发生率.
描述这些次要瘤的不匹配修复 (MMR) 现型.

主要方法:

分析了484名患有dMMR/MSI-HCRC的患者的前性队列.
评估了APC的发生 (在指数CRC之前或之后).
患者数据根据LS与零星状态进行了分层,并比较了具有和没有APC的患者的特征.

主要成果:

在484名患者中,有116名 (24.0%) 患有APC病史,平均每名患者增加1.4个瘤.
最常见的APC部位是皮肤 (24.7%) 和乳房 (18.5%).
在LS (25.0%) 和零星 (24.8%) dMMR/MSI-H CRC组中,APC的风险相似. 在任何一个子组中都没有确定APC的特定风险因素. 在零星病例中,只有3.8%的APC是dMMR/MSI-H,而LS病例中为50.0%.

结论:

患有dMMR/MSI-HCRC病史的患者,包括零星病例,面临患第二原发性瘤的显著风险.
由于这种风险增加,定期监测dMMR/MSI-HCRC患者至关重要.
在零星的dMMR/MSI-HCRC患者的第二种癌症中,很少表现出dMMR/MSI-H表型.

关键词:

林奇综合征是什么? 林奇综合征是什么?结肠直肠癌是什么意思缺陷的不匹配修复缺陷的不匹配修复微卫星的不稳定性第二种原发性癌症是第二种癌症.

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