A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene.

Détails

Ressource 1Télécharger: serval:BIB_BF0A35EBB792.P001 (320.27 [Ko])
Etat: Public
Version: de l'auteur
Licence: Non spécifiée
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ID Serval
serval:BIB_BF0A35EBB792
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
Institution
Titre
A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene.
Périodique
Familial Cancer
Auteur(s)
Vernez M., Hutter P., Monnerat C., Halkic N., Gugerli O., Bouzourene H.
ISSN
1389-9600
Statut éditorial
Publié
Date de publication
2007
Peer-reviewed
Oui
Volume
6
Numéro
1
Pages
141-145
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Résumé
Muir-Torre syndrome (MTS) is a rare cancer-predisposing syndrome that is autosomal dominantly inherited and characterized by the development of sebaceous skin lesions (adenomas, epitheliomas, basaliomas and carcinomas). These lesions are typically associated with tumors that belong to the spectrum of hereditary nonpolyposis colorectal cancer (HNPCC) (i.e., tumors of the colorectum, endometrium, stomach or ovary). Biliary malignancy in association with MTS has only rarely been reported. We report a case of Muir-Torre syndrome associated with intrahepatic cholangiocarcinoma, a location not previously described, and associated with a novel missense mutation of the MSH2 gene (c.2026T > C), predicted to disrupt the function of the gene.
Mots-clé
Adenocarcinoma, Mucinous/genetics, Adenocarcinoma, Mucinous/surgery, Adenoma/genetics, Adenoma/surgery, Adult, Brain Neoplasms/genetics, Brain Neoplasms/secondary, Carcinoma/genetics, Carcinoma/surgery, Cholangiocarcinoma/genetics, Cholangiocarcinoma/secondary, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, Colorectal Neoplasms, Hereditary Nonpolyposis/surgery, DNA Mutational Analysis, DNA Probes, DNA-Binding Proteins, Endometrial Neoplasms/surgery, Female, Germ-Line Mutation, Humans, Liver Neoplasms/genetics, Liver Neoplasms/surgery, Microsatellite Instability, MutS Homolog 2 Protein/deficiency, Mutation, Missense, Neoplasms, Multiple Primary/genetics, Neoplasms, Multiple Primary/surgery, Neoplastic Syndromes, Hereditary/genetics, Neoplastic Syndromes, Hereditary/surgery, Polyps/surgery, Proline/genetics, Sebaceous Gland Neoplasms/genetics, Sebaceous Gland Neoplasms/surgery, Serine/genetics, Skin Neoplasms/genetics, Skin Neoplasms/secondary, Syndrome
Pubmed
Web of science
Open Access
Oui
Création de la notice
18/02/2008 14:30
Dernière modification de la notice
01/10/2019 7:19
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