一例林奇综合征患者存在不一致的免疫组织化学和分子生物学检测结果，其存在一个新发的胚系 MLH1 突变。
A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results.
机构信息
CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, Nantes Cedex 1, France.
出版信息
World J Gastroenterol. 2012 Oct 21;18(39):5635-9. doi: 10.3748/wjg.v18.i39.5635.
Abstract
We describe a patient with a Homo sapiens mutL homolog 1 (MLH1)-associated Lynch syndrome with previous diagnoses of two distinct primary cancers: a sigmoid colon cancer at the age of 39 years, and a right colon cancer at the age of 50 years. The mutation identified in his blood and buccal cells, c.1771delG, p.Asp591Ilefs*25, appears to be a de novo event, as it was not transmitted by either of his parents. This type of de novo event is rare in MLH1 as only three cases have been reported in the literature so far. Furthermore, the discordant results observed between replication error phenotyping and immunohistochemistry highlight the importance of the systematic use of both pre-screening tests in the molecular diagnosis of Lynch syndrome.
摘要
我们描述了一位 Homo sapiens mutL 同源物 1 (MLH1) 相关的林奇综合征患者，他此前被诊断出两种不同的原发性癌症：39 岁时患有乙状结肠癌，50 岁时患有右结肠癌。在他的血液和口腔细胞中发现的突变 c.1771delG，p.Asp591Ilefs*25，似乎是一个新生事件，因为它既没有通过他的父母中的任何一方遗传。这种类型的新生事件在 MLH1 中很少见，迄今为止文献中仅报道了三例。此外，复制错误表型和免疫组织化学观察到的不一致结果突出了在林奇综合征的分子诊断中系统使用两种预筛选测试的重要性。
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