林奇综合征
微卫星不稳定性
MSH6型
医学
MSH2
子宫内膜癌
PMS2系统
MLH1
肿瘤科
癌症
妇科
内科学
DNA错配修复
癌症研究
结直肠癌
生物
遗传学
等位基因
基因
微卫星
作者
Shuangshuang Zhao,Lingli Chen,Yuqin Zang,Wenlu Liu,Shiqi Liu,Fei Teng,Fengxia Xue,Yingmei Wang
摘要
Abstract Lynch syndrome (LS) is an autosomal dominant inherited disease caused by germline pathogenic variants (PVs) in mismatch repair (MMR) genes. LS‐associated endometrial cancer (LS‐EC) is the most common extraintestinal sentinel cancer caused by germline PVs in MMR genes, including MLH1 , MSH2 , MSH6 and PMS2 . The clinicopathologic features of LS‐EC include early age of onset, lower body mass index (BMI), endometrioid carcinoma and lower uterine segment involvement. There has been significant progress in screening, diagnosis, surveillance, prevention and treatment of LS‐EC. Many studies support universal screening for LS among patients with EC. Screening mainly involves a combination of traditional clinical criteria and molecular techniques, including MMR‐immunohistochemistry (MMR‐IHC), microsatellite instability (MSI) testing, MLH1 promoter methylation testing and gene sequencing. The effectiveness of endometrial biopsy and transvaginal ultrasound (TVS) for clinical monitoring of asymptomatic women with LS are uncertain yet. Preventive strategies include hysterectomy and bilateral salpingo‐oophorectomy (BSO) as well as chemoprophylaxis using exogenous progestin or aspirin. Recent research has revealed the benefits of immunotherapy for LS‐EC. The NCCN guidelines recommend pembrolizumab and nivolumab for treating patients with advanced or recurrent microsatellite instability‐high (MSI‐H)/mismatch repair‐deficient (dMMR) EC.
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