Lynch综合征相关性子宫内膜癌的研究进展

The research progress of Lynch syndrome-associated endometrial cancers

Lynch综合征（LS）是由DNA错配修复基因（MMR）突变导致的常染色体显性遗传病,子宫内膜癌（EC）是LSⅡ型最常见的肠外肿瘤.LS家系MMR基因突变的女性成员终生患EC的风险＞35％,LS相关性EC具有发病年龄早、以子宫内膜样腺癌为主、组织学高分化、易累及子宫下段,预后好等临床病理特征.对年轻和具有明显家族史的LS患者应施行联合预筛查和基因检测,对高危患者采取子宫内膜活检等临床监测手段.口服避孕药对LS相关性EC具有保护作用,而预防性手术具有确切效果,但也有相应风险,术前需充分知情同意,术后需激素替代治疗.

Lynch syndrome.（LS） is an autosomal dominant condition caused by a mutation in the mismatch repair genes （MMR）.Endometrial cancer （EC） is the most common extra-colonic cancers of LS Ⅱ type.Among the female members of LS family with the MMR gene mutation,EC has an overall lifetime risk more than 35％.LS-associated EC is more likely present as the clinical pathological characteristics of early age of onset,endometrioid adenocarcinoma,lower grade,lower uterine segment involvement,and better prognosis.LS patients with family history and early age of onset should be performed with a combined screening and genetic testing,while high-risk patients should be taken clinical monitoring methods as endometrial biopsy.Oral contraceptives mav be reasonable chemopreventive agents in the patients with LS.Although prophylactic hysterectomy with bilateral salpingo-oophorectomy is an effective strategy to prevent EC in women with LS,preoperative counseling should address the trade-offs between the reduction in the risk of cancer,and the risks and side effects of surgery.The patients need hormone replacement therapy after surgery.