title: High risk for neoplastic transformation of endometriosis in a carrier of Lynch syndrome.
abstract: Lynch syndrome is an autosomal dominant cancer-susceptibility disorder caused by mutations in DNA mismatch repair genes. Women with Lynch syndrome have an increased lifetime risk for endometrial and ovarian cancers. While there is evidence of efficacy for prophylactic surgery, no standard recommendations have been developed to support screening for premalignant endometrial and ovarian epithelial lesions in high-risk women. Here, we report a case of a healthy woman carrying a germline mutation in MLH1 gene with endometrial intra-epithelial neoplasia and ovarian endometriotic lesions exhibiting a loss of MLH1 protein expression. This case report illustrates the malignant potential of endometriosis, and highlights the need for a meticulous management of gynecologic premalignant precursor lesions in reducing cancer risk among related Lynch syndrome women.
authors.affiliation: Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
authors.forename: Christine
authors.initials: C
authors.lastname: Nyiraneza
authors.forename: Etienne
authors.initials: E
authors.lastname: Marbaix
authors.forename: Mireille
authors.initials: M
authors.lastname: Smets
authors.forename: Christine
authors.initials: C
authors.lastname: Galant
authors.forename: Christine
authors.initials: C
authors.lastname: Sempoux
authors.forename: Karin
authors.initials: K
authors.lastname: Dahan
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D002278:Carcinoma in Situ / Q000235:genetics / Q000473:pathology*; D002471:Cell Transformation, Neoplastic / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics / Q000473:pathology*; D016889:Endometrial Neoplasms / Q000235:genetics / Q000473:pathology*; D004715:Endometriosis / Q000235:genetics / Q000473:pathology*; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D012307:Risk Factors
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1