High risk for neoplastic transformation of endometriosis in a carrier of Lynch syndrome.

Détails

ID Serval
serval:BIB_ED80EBB540AE
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
High risk for neoplastic transformation of endometriosis in a carrier of Lynch syndrome.
Périodique
Familial Cancer
Auteur(s)
Nyiraneza C., Marbaix E., Smets M., Galant C., Sempoux C., Dahan K.
ISSN
1573-7292 (Electronic)
ISSN-L
1389-9600
Statut éditorial
Publié
Date de publication
2010
Peer-reviewed
Oui
Volume
9
Numéro
3
Pages
383-387
Langue
anglais
Notes
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
Résumé
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.
Mots-clé
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
Pubmed
Web of science
Création de la notice
29/01/2015 12:33
Dernière modification de la notice
20/08/2019 16:15
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