CAJ | 학술논문

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.
Lynch종합정(LS)시유DNA착배수복기인(MMR)돌변도치적상염색체현성유전병,자궁내막암(EC)시LSⅡ형최상견적장외종류.LS가계MMR기인돌변적녀성성원종생환EC적풍험＞35％,LS상관성EC구유발병년령조、이자궁내막양선암위주、조직학고분화、역루급자궁하단,예후호등림상병리특정.대년경화구유명현가족사적LS환자응시행연합예사사화기인검측,대고위환자채취자궁내막활검등림상감측수단.구복피잉약대LS상관성EC구유보호작용,이예방성수술구유학절효과,단야유상응풍험,술전수충분지정동의,술후수격소체대치료.
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.