title: [Muir-Torre syndrome and Turcot syndrome].
abstract: BACKGROUND
  Lynch syndrome (LS) is a syndrome that carries a genetic predisposition to certain cancers associating, either in a single individual or in a family, a visceral tumour, mainly colorectal, with a high risk of other synchronous or metachronous cancers. LS is linked with mutations in the genes coding for proteins in the DNA repair system. Phenotypic variants of SL exist, including Muir-Torre syndrome (MTS) and Turcot syndrome (TS), both of which predispose to colorectal cancer. They may be distinguished by the presence of benign or malignant sebaceous tumours in MTS, and tumours of the central nervous system in TS.
  
  
  METHODS
  A 59-year-old man, with a history of right colon cancer at the age of 36 years, consulted for a nose lesion shown by histopathological examination to be a sebaceous tumour. Immunohistochemistry revealed loss of expression of proteins MSH2 and MSH6, strongly suggesting a diagnosis of MTS. Eight years earlier, the man's son had developed a fatal glioblastoma; given the paternal phenotype of MTS, the hypothesis of TS in the son is probable.
  
  
  CONCLUSIONS
  This case suggests that several variants of Lynch syndrome may be seen within the same family. It raises the issue of screening for cerebral tumours in patients with MTS and in their family members, even though such a recommendation does not exist; current recommendations in fact consist primarily of gastrointestinal and gynaecological monitoring.
authors.affiliation: Clinique dermatologique, hôpitaux universitaires de Strasbourg, université de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg, France. Electronic address: charles.velter@chru-strasbourg.fr.
authors.forename: C
authors.initials: C
authors.lastname: Velter
authors.affiliation: Cabinet de dermatologie, 19, rue de l'Observatoire, 67000 Strasbourg, France.
authors.forename: P
authors.initials: P
authors.lastname: Caussade
authors.affiliation: Oncogénétique, centre Paul-Strauss, 3, rue de la Porte de l'Hôpital, 67065 Strasbourg, France.
authors.forename: J-P
authors.initials: JP
authors.lastname: Fricker
authors.affiliation: Clinique dermatologique, hôpitaux universitaires de Strasbourg, université de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg, France.
authors.forename: B
authors.initials: B
authors.lastname: Cribier
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics*; D001932:Brain Neoplasms / Q000150:complications / Q000235:genetics*; D002277:Carcinoma / Q000601:surgery; D003110:Colonic Neoplasms / Q000601:surgery; D015179:Colorectal Neoplasms / Q000150:complications / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D055653:Muir-Torre Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000150:complications / Q000235:genetics*; D009669:Nose Neoplasms / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D012307:Risk Factors; D012626:Sebaceous Gland Neoplasms / Q000235:genetics / Q000473:pathology*; D012680:Sensitivity and Specificity
chemical_list: D014408:Biomarkers, Tumor; D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein
keywords: DNA mismatch repair genes; Génétique; Instabilité des microsatellites; Microsatellite instability; Muir-Torre syndrome; Sebaceous gland neoplasms; Syndrome de Muir-Torre; Syndrome de Turcot; Tumeurs sébacées; Turcot syndrome