title: Melanoma and nonmelanoma skin cancer in patients with multiple tumours--evidence for new syndromes in a population-based study.
abstract: BACKGROUND
  The hypotheses that Swedish patients with four or more primary tumours [including at least one cutaneous malignant melanoma (CMM)] harbour an increased number of CDKN2A (formerly p16) germline mutations, and that this group of patients show a predisposition to other tumours, e.g. nonmelanoma skin cancer (NMSC), were studied descriptively. So far the mutation 113insArg explains all CDKN2A-associated CMM in ethnic Swedes.
  
  
  OBJECTIVE
  All patients with four or more primary tumours, of which at least one was a CMM, from the Southern Swedish Regional Tumour Registry, between 1958 and 1999, were included in this study.
  
  
  METHODS
  Forty-four patients were found and subdivided into three groups according to having multiple CMM (group A) or single CMM +/- NMSC (groups B and C). Screening for the presence of the Swedish founder mutation 113insArg in blood or in tissue blocks was performed.
  
  
  RESULTS
  Patients in group A were younger at the time of the first CMM diagnosis than patients in group B and group C. The 113insArg mutation was found in four of 44 patients (9%), three with multiple CMM. In group C (n = 14) no founder mutation was evident, while in group B (n = 15) one mutation carrier was found. Nonmutation carriers with multiple CMM (group A) also had a predilection for meningiomas and neurinomas (four patients) or multiple NMSC (three patients). In group B CMM were especially associated with adenocarcinomas but in group C CMM were associated with multiple NMSC.
  
  
  CONCLUSIONS
  The association between meningiomas and neurinomas (no acoustic neurinoma was seen) might indicate a new syndrome. Patients in groups B and C may harbour unknown genetic defects, which could interact with different environmental risk factors.
authors.affiliation: Department of Dermatology, University Hospital, S-221 85 Lund, Sweden. kari.nielsen@telia.com
authors.forename: K
authors.initials: K
authors.lastname: Nielsen
authors.forename: C
authors.initials: C
authors.lastname: Ingvar
authors.forename: A
authors.initials: A
authors.lastname: Måsbäck
authors.forename: J
authors.initials: J
authors.lastname: Westerdahl
authors.forename: A
authors.initials: A
authors.lastname: Borg
authors.forename: T
authors.initials: T
authors.lastname: Sandberg
authors.forename: N
authors.initials: N
authors.lastname: Jonsson
authors.forename: J
authors.initials: J
authors.lastname: Nagel
authors.forename: H
authors.initials: H
authors.lastname: Olsson
mesh_terms: D000230:Adenocarcinoma / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D019942:Genes, p16; D006801:Humans; D008297:Male; D008545:Melanoma / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008579:Meningioma / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D009442:Neurilemmoma / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D012307:Risk Factors; D012878:Skin Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D013548:Sweden / Q000453:epidemiology; D013577:Syndrome