title: Different phenotypes in Muir-Torre syndrome: clinical and biomolecular characterization in two Italian families.
abstract: The Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the presence of sebaceous gland tumours, with or without keratoacanthomas, associated with visceral malignancies. We describe and characterize two families in which the ample phenotypic variability of MTS was evident. After clinical evaluation, the skin and visceral tumours of one member of a family with 'classic' MTS and one member of a family with a 'peculiar' MTS phenotype without sebaceous lesions, but with only multiple keratoacanthomas, were analysed for microsatellite instability (MSI) and by immunohistochemistry. Tumours of both individuals showed MSI, with a concomitant lack of MSH2 immunostaining in all evaluated skin and visceral lesions; moreover, in the proband of family 2 a constitutional mutation (C-->T substitution leading to a stop codon) in the MSH2 gene was identified. We conclude that the diagnosis of MTS, which is mainly clinical, should take into account an ample phenotypic variability, which includes both cases with typical cancer aggregation in families and cases characterized by the association of visceral malignancies with multiple keratoacanthomas (without sebaceous lesions), without an apparent family history of cancer.
authors.affiliation: Division of Internal Medicine, Department of Medicine, University of Modena and Reggio Emilia, Via del Pozzo 71, Policlinico, 41100 Modena, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Ponti
authors.forename: M
authors.initials: M
authors.lastname: Ponz de Leon
authors.forename: L
authors.initials: L
authors.lastname: Losi
authors.forename: C
authors.initials: C
authors.lastname: Di Gregorio
authors.forename: P
authors.initials: P
authors.lastname: Benatti
authors.forename: M
authors.initials: M
authors.lastname: Pedroni
authors.forename: A
authors.initials: A
authors.lastname: Scarselli
authors.forename: G
authors.initials: G
authors.lastname: Riegler
authors.forename: L
authors.initials: L
authors.lastname: Lembo
authors.forename: G
authors.initials: G
authors.lastname: Pellacani
authors.forename: S
authors.initials: S
authors.lastname: Seidenari
authors.forename: G
authors.initials: G
authors.lastname: Rossi
authors.forename: L
authors.initials: L
authors.lastname: Roncucci
mesh_terms: D000230:Adenocarcinoma / Q000150:complications / Q000601:surgery; D000328:Adult; D002295:Carcinoma, Transitional Cell / Q000150:complications / Q000601:surgery; D002429:Cecal Diseases / Q000150:complications / Q000601:surgery; D003110:Colonic Neoplasms / Q000150:complications / Q000601:surgery; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007636:Keratoacanthoma / Q000235:genetics* / Q000601:surgery; D007680:Kidney Neoplasms / Q000150:complications / Q000601:surgery; D007682:Kidney Pelvis; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D051718:MutS Homolog 2 Protein; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000601:surgery; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis*; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012626:Sebaceous Gland Neoplasms / Q000235:genetics* / Q000601:surgery; D012878:Skin Neoplasms / Q000150:complications / Q000601:surgery; D013577:Syndrome
chemical_list: D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein