title: [The tip of the iceberg: multiple cutaneous sebaceous tumor in colon cancer. Muir-Torre syndrome--case report].
abstract: Muir-Torre syndrome is a rare genodermatosis with autosomal dominant inheritance. The syndrome is considered to be a subtype of the hereditary nonpolyposis colorectal cancer (or Lynch-syndrome). In two-third of the cases, it develops as the consequence of germline mutations in mismatch-repair genes--most commonly MutS Homolog-2 and MutL Homolog-1. Its diagnosis can be established if at least one sebaceous tumor (sebaceoma, sebaceous adenoma, epithelioma, carcinoma or basal-cell carcinoma with sebaceous differentiation) and/or keratoacanthoma and at least one internal neoplasm are present. Here the authors present the history of a 52-year-old man with multiple sebaceous carcinomas on his back. Immunohistochemical analysis showed the lack of MutL Homolog-1 protein expression in the tumor cells. Detailed clinical workup in order to identify internal malignancy found malignant coecum tumor. Histopathological evaluation of the sample from the right hemicolectomy revealed mid-grade adenocarcinoma with MutL Homolog-1 and postmeiotic segregation increased-2 deficiency. The detection of the cutaneous sebaceous carcinoma and the application of the modern diagnostic methods resulted in identification of the associated colorectal cancer in an early stage; hence, definitive treatment was available for the patient.
authors.affiliation: Belgyógyászati Osztály, Zala Megyei Kórház Zalaegerszeg, Zrínyi u. 1., 8900.
authors.forename: Gyula
authors.initials: G
authors.lastname: Herr
authors.forename: Mária
authors.initials: M
authors.lastname: Szenes
authors.forename: Györgyi
authors.initials: G
authors.lastname: Hohl
authors.forename: Márta Erzsébet
authors.initials: ME
authors.lastname: Vinkler
authors.forename: György
authors.initials: G
authors.lastname: Tüske
authors.forename: János
authors.initials: J
authors.lastname: Horváth
authors.forename: Gyöngyi
authors.initials: G
authors.lastname: Nagy
authors.forename: Mariann
authors.initials: M
authors.lastname: Tihanyi
authors.forename: Márta
authors.initials: M
authors.lastname: Széll
authors.forename: Nikoletta
authors.initials: N
authors.lastname: Nagy
authors.forename: Beáta
authors.initials: B
authors.lastname: Gasztonyi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000302:isolation & purification; D000230:Adenocarcinoma / Q000737:chemistry / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D014408:Biomarkers, Tumor / Q000302:isolation & purification*; D003110:Colonic Neoplasms / Q000737:chemistry / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D004268:DNA-Binding Proteins / Q000302:isolation & purification; D003937:Diagnosis, Differential; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D055653:Muir-Torre Syndrome / Q000209:etiology* / Q000378:metabolism; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000302:isolation & purification; D000074081:MutS Homolog 3 Protein; D009687:Nuclear Proteins / Q000302:isolation & purification
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D014408:Biomarkers, Tumor; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C501486:MLH1 protein, human; C078444:MSH3 protein, human; D000074081:MutS Homolog 3 Protein; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein
keywords: Muir–Torre syndrome; Muir–Torre-szindróma; faggyúmirigy-daganat; hereditary nonpolyposis colorectal cancer; sebaceous gland neoplasms; örökletes nem polyposus vastagbélrák