林奇综合征患者子宫内膜癌及卵巢癌的筛查与预防

Screening and Prevention of Endometrial Cancer and Ovarian Cancer in Patients with Lynch Syndrome

患有林奇综合征(Lynch syndrome,LS)的妇女终生患子宫内膜癌和卵巢癌风险大幅增加。而子宫内膜癌或卵巢癌可以是LS患者的首发恶性肿瘤,也可以是第二原发恶性肿瘤。LS相关子宫内膜癌主要类型是子宫内膜样腺癌。近年来,有关LS相关子宫内膜癌及卵巢癌的筛查研究较少,主要是通过门诊子宫内膜活检、微卫星高不稳定性(microsatellite instability-high,MSI-H)状态错配修复(mismatch repair,MMR)蛋白突变及基因检测来识别癌前病变和早期癌症。而在预防方面主要是使用口服避孕药,以及预防性手术切除子宫和卵巢。LS女性患子宫内膜癌终生风险为40%~60%,患卵巢癌的终生风险为4%~24%。因此,对LS女性患者进行子宫内膜癌及卵巢癌的早期筛查和预防有重要意义。

Women with Lynch syndrome have a life-long risk of endometrial cancer and ovarian cancer.Endometrial cancer or ovarian cancer can be the first malignant tumor or the second primary malignant tumor in patients with Lynch syndrome.The main type of endometrial cancer associated with Lynch syndrome is endometrioid adenocarcinoma.In recent years,there have been few screening studies on endometrial cancer and ovarian cancer related to Lynch syndrome,mainly through outpatient endometrial biopsy,microsatellite high instability(MSI-H)status or MMR protein mutation and genetic testing to identify precancerous lesions and early cancers.In terms of prevention,oral contraceptives and preventive surgery removing the uterus and ovaries are used.Women with Lynch syndrome have a 40%~60%lifetime risk of endometrial cancer,and a 4%~24%lifetime risk of ovarian cancer.Therefore,it is of great significance for women with Lynch syndrome to have early screening and prevention of endometrial cancer and ovarian cancer.