title: Neurofibromatosis 1 phenotype associated to malignant peripheral nerve sheath tumours: a case-control study.
abstract: BACKGROUND
  Malignant peripheral nerve sheath tumours (MPNSTs) are the main cause of death in neurofibromatosis 1 adult patients.
  
  
  OBJECTIVE
  To determine the clinical type of neurofibromas associated to MPNSTs.
  
  
  METHODS
  Case-control study. Cases were neurofibromatosis 1 adults with MPNSTs and controls were patients without MPNSTs individually matched by age and sex (1 : 3). Both were recruited from our database. The following variables were studied: clinical presence of cutaneous, subcutaneous or plexiform neurofibromas and of internal neurofibromas. Internal neurofibromas were confirmed by clinical imaging. Multivariate odds ratios (aORs) were estimated with their 95% confidence interval (CI).
  
  
  RESULTS
  From January 1995 to December 2007, 52 patients (cases) were identified with a MPNSTs, 155 controls could be recruited. In the multivariate analysis, MPNSTs were significantly associated with the presence of internal NFs (aOR: 7.5; 95% CI: 3.2-17.4), a trend for an association was observed for the presence of subcutaneous neurofibromas (aOR: 2.11; 95% CI: 0.89-5).
  
  
  CONCLUSIONS
  This study confirms the association between the MPNSTs and the internal neurofibromas. The later are indeed associated with a high risk of malignant transformation.
authors.affiliation: Department of Dermatology, Hôpital Henri-Mondor, APHP, Créteil, France.
authors.forename: O
authors.initials: O
authors.lastname: Zehou
authors.forename: S
authors.initials: S
authors.lastname: Bularca
authors.forename: S
authors.initials: S
authors.lastname: Bastuji-Garin
authors.forename: N
authors.initials: N
authors.lastname: Ortonne
authors.forename: L
authors.initials: L
authors.lastname: Valeyrie-Allanore
authors.forename: P
authors.initials: P
authors.lastname: Wolkenstein
authors.forename: T A
authors.initials: TA
authors.lastname: Duong
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018317:Nerve Sheath Neoplasms / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000473:pathology*; D010641:Phenotype; D012189:Retrospective Studies