title: [Muir-Torre syndrome associated with Waldenstrom's macroglobulinemia].
abstract: BACKGROUND
  Muir-Torre syndrome (MTS), a cutaneous variant of Lynch syndrome, consists of hereditary predisposition to cutaneous tumours and gastrointestinal and gynaecological neoplasms, with autosomal dominant transmission. It is associated with mutations in genes coding for proteins in the DNA mismatch repair system.
  
  
  METHODS
  Herein, we report a case of a male patient presenting Waldenstrom's macroglobulinemia since the age of 50 and which, after the age of 65 years, developed into sebaceous tumours (5 sebaceous adenomas, 1 sebaceoma, 1 sebaceous carcinoma) and colonic lesions (4 adenomas). The clinical phenotype was consistent with MTS. Somatic analysis carried out on one sebaceous tumour showed instability of the microsatellites with loss of expression of MSH2 and MSH6 although constitutional genetic analysis showed no germline mutations known to be harmful.
  
  
  CONCLUSIONS
  This noteworthy case raises a number of questions, including the possibility of association between STM and Waldenstrom's macroglobulinemia, which is discussed herein.
authors: Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France. Electronic address: charles.velter@gmail.com.
authors: C
authors: C
authors: Velter
authors: Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France.
authors: F
authors: F
authors: Bourlond
authors: Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France.
authors: C
authors: C
authors: Wettle
authors: Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France.
authors: B
authors: B
authors: Lioure
authors: Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France.
authors: D
authors: D
authors: Lipsker
authors: Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France.
authors: C
authors: C
authors: Maugard
authors: Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France.
authors: B
authors: B
authors: Cribier
mesh_terms: D000236:Adenoma / Q000235:genetics; D000368:Aged; D002277:Carcinoma / Q000235:genetics; D003110:Colonic Neoplasms / Q000235:genetics; D006801:Humans; D008297:Male; D053842:Microsatellite Instability; D055653:Muir-Torre Syndrome / Q000150:complications* / Q000235:genetics; D012626:Sebaceous Gland Neoplasms / Q000235:genetics; D008258:Waldenstrom Macroglobulinemia / Q000150:complications*
keywords: DNA mismatch repair genes; Genetics; Génétique; Instabilité des microsatellites; Maladie de Waldenström; Microsatellite instability; Muir-Torre syndrome; Sebaceous gland neoplasms; Syndrome de Muir-Torre; Tumeurs sébacées; Waldenstrom's macroglobulinemia