title: Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.
abstract: Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.Peculiar dermatologic manifestations are present in several heritable gastrointestinal disorders. Muir-Torre syndrome (MTS) is a genodermatosis whose peculiar feature is the presence of sebaceous gland tumors associated with visceral malignancies. We describe one patient in whom multiple sebaceous gland tumors were associated with early onset colon and thyroid cancers and attenuated polyposis coli. Her family history was positive for colonic adenomas. She had a daughter presenting with yellow papules in the forehead region developed in the late infancy. Skin and visceral neoplasms were tested for microsatellite instability and immunohistochemical status of mismatch repair (MMR), APC and MYH proteins. The proband colon and skin tumors were microsatellite stable and showed normal expression of MMR proteins. Cytoplasmic expression of MYH protein was revealed in colonic cancer cells. Compound heterozygosity due to biallelic mutations in MYH, R168H and 379delC, was identified in the proband. The 11-year-old daughter was carrier of the monoallelic constitutional mutation 379delC in the MYH gene; in the sister, the R168H MYH gene mutation was detected. This report presents an interesting case of association between MYH-associated polyposis and sebaceous gland tumors. These findings suggest that patients with MTS phenotype that include colonic polyposis should be screened for MYH gene mutations.
authors.affiliation: Department of Internal Medicine, University of Modena and Reggio Emilia, Modena, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Ponti
authors.forename: M
authors.initials: M
authors.lastname: Ponz de Leon
authors.forename: S
authors.initials: S
authors.lastname: Maffei
authors.forename: M
authors.initials: M
authors.lastname: Pedroni
authors.forename: L
authors.initials: L
authors.lastname: Losi
authors.forename: C
authors.initials: C
authors.lastname: Di Gregorio
authors.forename: V
authors.initials: V
authors.lastname: Gismondi
authors.forename: A
authors.initials: A
authors.lastname: Scarselli
authors.forename: P
authors.initials: P
authors.lastname: Benatti
authors.forename: B
authors.initials: B
authors.lastname: Roncari
authors.forename: S
authors.initials: S
authors.lastname: Seidenari
authors.forename: G
authors.initials: G
authors.lastname: Pellacani
authors.forename: C
authors.initials: C
authors.lastname: Varotti
authors.forename: E
authors.initials: E
authors.lastname: Prete
authors.forename: L
authors.initials: L
authors.lastname: Varesco
authors.forename: L
authors.initials: L
authors.lastname: Roncucci
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D002648:Child; D003110:Colonic Neoplasms / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics; D010375:Pedigree; D012626:Sebaceous Gland Neoplasms / Q000235:genetics*; D013577:Syndrome; D013964:Thyroid Neoplasms / Q000235:genetics
chemical_list: D045647:DNA Glycosylases; C061738:mutY adenine glycosylase