A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results  

作　　者：Fabrice Airaud Sébastien Küry Isabelle Valo Ingrid Maury Dominique Bonneau Olivier Ingster Stéphane Bezieau 

机构地区：[1]CHU Nantes,Service de Génétique Médicale,9 quai Moncousu,44093 Nantes Cedex 1,France [2]Institut de Cancérologie de l'Ouest,Service d'Anatomie et Cytologie Pathologique,2 rue Moll,49933 Angers Cedex 9,France [3]CHU Angers,Service de Génétique Médicale,4 rue Larrey,49933 Angers,France

出　　处：《World Journal of Gastroenterology》2012年第39期5635-5639,共5页世界胃肠病学杂志（英文版）

摘　　要：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. Further-more, the discordant results observed between repli-cation error phenotyping and immunohistochemistry highlight the importance of the systematic use of both pre-screening tests in the molecular diagnosis of Lynch syndrome.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 muta- tion 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. Further- more, the discordant results observed between repli- cation error phenotyping and immunohistochemistry highlight the importance of the systematic use of both pre-screening tests in the molecular diagnosis of Lynch syndrome.

关 键 词：Lynch syndrome Homo sapiens mutL ho-molog 1 De novo mutation Replication error pheno- type Immunohistochemistry 

分 类 号：R735.35[医药卫生—肿瘤]