Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
High risk for neoplastic transformation of endometriosis in a carrier of Lynch syndrome.
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
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.
Adaptor Proteins, Signal Transducing/genetics, Carcinoma in Situ/genetics, Carcinoma in Situ/pathology, Cell Transformation, Neoplastic/genetics, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, Colorectal Neoplasms, Hereditary Nonpolyposis/pathology, Endometrial Neoplasms/genetics, Endometrial Neoplasms/pathology, Endometriosis/genetics, Endometriosis/pathology, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Middle Aged, Mutation, Nuclear Proteins/genetics, Pedigree, Risk Factors
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