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Lynch Syndrome

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关键词消化 疾病 结直肠癌

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解析

Lynch 英 [lɪntʃ] 美 [lɪntʃ]

释义   v. 处以私刑;以私刑绞死

n. 私刑,私刑处死

n. (Lynch) (美)林奇(人名)

例句   Francis Lynch called it nummular neurodermatitis. Francis Lynch称之为钱币状神经性皮炎。

 

syndrome 英 ['sɪndrəʊm] 美 ['sɪndrəʊm]

释义   n. [临床] 综合症状;并发症状;校验子;并发位

例句   Staphylococcal toxic syndrome,atypical presentation of Kawasaki syndrome or staphylococcal skin syndrome? 金黄色葡萄球菌毒性综合征,非典型川崎综合征或金黄色葡萄球菌皮肤综合征?


概述

林奇综合征(Lynch syndrome,LS)是一种常染色体显性遗传病,是由错配修复(MMR)基因突变引起的对结直肠癌及其他癌症(如子宫内膜癌、胃癌)的遗传易感性。这些 MMR 基因突变主要包括 MLH1、MSH2/Epcam、MSH6 及 PMS2 等突变。  临床分型(1)根据LS患者是否发生肠外肿瘤,LS又被分为LynchⅠ综合征和LynchⅡ综合征。(2)根据患者基因检测的结果又发现4种LS的变体:Muir-Torre综合征、Turcot综合征、体制性错配修复缺

Gut Microbiota Analysis in Postoperative Lynch Syndrome Patients复制标题

术后Lynch综合征患者的肠道菌群分析

发表时间:2019-07-30

影响因子:4.3

作者: Giorgia Mori

期刊:Frontiers in Microbiology

Lynch syndrome (LS) is a dominantly inherited condition with incomplete penetrance, characterized by high predisposition to colorectal cancer (CRC), endometrial and ovarian cancers, as well as to other tumors. LS is associated with constitutive DNA mismatch repair (MMR) gene defects, and carriers of the same pathogenic variants can show great phenotypic heterogeneity in terms of cancer spectrum. In the last years, human gut microbiota got a foothold among risk factors responsible for the onset and evolution of sporadic CRC, but its possible involvement in the modulation of LS patients' phenotype still needs to be investigated. In this pilot study, we performed 16S rRNA gene sequencing of bacterial DNA extracted from fecal samples of 10 postoperative LS female patients who had developed colonic lesions (L-CRC) or gynecological cancers (L-GC). Our preliminary data show no differences between microbial communities of L-CRC and L-GC patients, but they plant the seed of the possible existence of a fecal microbiota pattern associated with LS genetic background, with Faecalibacterium prausnitzii, Parabacteroides distasonis, Ruminococcus bromii, Bacteroides plebeius, Bacteroides fragilis and Bacteroides uniformis species being the most significantly over-represented in LS patients (comprising both L-CRC and L-GC groups) compared to healthy subjects.

译文

Lynch综合征(LS)是显性遗传的外显率不完全的疾病,其特征是易患结直肠癌(CRC),子宫内膜癌和卵巢癌以及其他肿瘤。 LS与组成性DNA错配修复(MMR)基因缺陷相关,并且相同致病变体的携带者在癌症谱方面可以表现出极大的表型异质性。近年来,人类肠道菌群已成为影响散发性CRC发病和发展的危险因素之一,但其可能参与LS患者表型的调节仍需研究。在这项初步研究中,我们对从10名患有结肠病变(L-CRC)或妇科癌症(L-GC)的术后LS女性患者的粪便样本中提取的细菌DNA进行了16S rRNA基因测序。我们的初步数据显示L-CRC和L-GC患者的微生物群落之间没有差异,但是他们种植了可能存在与LS遗传背景相关的粪便微生物群模式的种子,其中包括Faecalibacterium prausnitzii,Parabacteroides distasonis,Ruminococcus bromii,Bacteroides与健康受试者相比,在LS患者(包括L-CRC和L-GC组)中,plebeius,脆弱拟杆菌和统一拟杆菌(Bacteroides fragalis)物种最明显。