Lynch综合征相关肿瘤概述

Lynch综合征是一种已被公认的遗传性肿瘤综合征,是引起遗传性结直肠癌最常见的病因,也是目前唯一已知的遗传性子宫内膜癌的病因,Lynch综合征相关肿瘤还包括卵巢癌、胃癌、尿路上皮癌和小肠癌等。虽然已明确Lynch综合征的发病机制是错配修复缺陷和微卫星不稳定性,但是近年来其诊断和分子发病机制方面不断有新的进展,提示不同的错配修复基因缺陷对应着不同的Lynch综合征相关肿瘤及不同的发病率,对患者的监测产生着新的影响,治疗手段也在不断丰富和改进,如利用微卫星不稳定性的免疫效应治疗Lynch综合征相关肿瘤已取得了积极的成果。介绍Lynch综合征的遗传学特征、筛查诊断、其相关肿瘤的临床病理特征及治疗,重点阐述该综合征的最新进展。

Overview of Lynch Syndrome-Associated Tomors

Lynch syndrome is a recognized hereditary tumor syndrome, which is the most common cause of hereditary colorectal cancer and the only known cause of hereditary endometrial cancer. Lynch syndrome-associated tumors also include ovarian cancer, gastric cancer, urothelial cancer and small bowel cancer. While we have known the mechanism of Lynch syndrome is mismatch repair deficiency and microsatellite instability, there have been new advances recently in their diagnosis and molecular pathogenesis, which suggests that different mismatch repair deficiency corresponds to different Lynch syndrome-associated tumors and different incidence, and produces new impact on the surveillance of patients, with the treatment methods constantly enriched and improved. For example, positive results have been achieved in the treatment of Lynch syndrome-associated tumors using the immune effects of microsatellite instability. We will introduce the genetic characteristics, diagnosis of Lynch syndrome and clinicopathological characteristics, treatment of its associated tumors, and the recent progress will be highlighted.