title: The Muir-Torre syndrome: a rare variant of hereditary nonpolyposis colorectal cancer associated with hMSH2 mutation.
abstract: The Muir-Torre syndrome is a rare autosomal dominant disorder characterized by the association of visceral malignancies with typical skin lesions. This syndrome is now considered a subtype of the more common hereditary nonpolyposis colorectal cancer syndrome (HNPCC). This last condition has been ascribed to mutations in four mismatch repair genes, and similar mutations, mostly located at hMSH2 gene, are now being described in some Muir-Torre patients. We describe the case of a 64-yr-old woman with no family history of colorectal cancer, who developed two visceral malignancies belonging to the usual spectrum of hereditary nonpolyposis colorectal cancer (colon and stomach), beginning at age 41. She additionally developed several skin tumors, including multiple keratoacanthomas, thus fulfilling Muir-Torre diagnostic criteria. Because of her cutaneous phenotype, she was screened for DNA mismatch repair gene mutations by in vitro synthetized protein assay (IVSP) and a truncating mutation was identified at hMSH2. We further discuss the clinical significance of the Muir-Torre phenotype, the association of this syndrome with hMSH2 mutations and the important implications of genetic diagnosis for the patient and her offspring.
authors.affiliation: Serviço de Gastroenterologia and Centro de Patobiologia Molecular, Instituto Português de Oncologia Francisco Gentil, Lisboa.
authors.forename: A
authors.initials: A
authors.lastname: Suspiro
authors.forename: P
authors.initials: P
authors.lastname: Fidalgo
authors.forename: M
authors.initials: M
authors.lastname: Cravo
authors.forename: C
authors.initials: C
authors.lastname: Albuquerque
authors.forename: E
authors.initials: E
authors.lastname: Ramalho
authors.forename: C N
authors.initials: CN
authors.lastname: Leitão
authors.forename: F
authors.initials: F
authors.lastname: Costa Mira
mesh_terms: D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004268:DNA-Binding Proteins; D005260:Female; D006801:Humans; D008875:Middle Aged; D051718:MutS Homolog 2 Protein; D009363:Neoplasm Proteins / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*; D013577:Syndrome
chemical_list: D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein