title: Malignant peripheral nerve sheath tumours in inherited disease.
abstract: BACKGROUND
  Malignant peripheral nerve sheath tumours (MPNST) are rare tumours known to occur at high frequency in neurofibromatosis 1 (NF1), but may also occur in other cancer prone syndromes.
  
  
  METHODS
  The North West Regional Genetic Register covers a population of 4.1 million and was interrogated for incidence of MPNST in 12 cancer prone syndromes. Age, incidence and survival curves were generated for NF1.
  
  
  RESULTS
  Fifty two of 1254 NF1 patients developed MPNST, with MPNST also occurring in 2/181 cases of schwannomatosis and 2/895 NF2 patients. Three cases were also noted in TP53 mutation carriers. However, there were no cases amongst 5727BRCA1/2 carriers and first degree relatives, 2029 members from Lynch syndrome families, nor amongst 447 Familial Adenomatous Polyposis, 202 Gorlin syndrome, nor 87 vHL cases.
  
  
  CONCLUSIONS
  MPNST is associated with schwannomatosis and TP53 mutations and is confirmed at high frequency in NF1. It appears to be only increased in NF2 amongst those that have been irradiated. The lifetime risk of MPNST in NF1 is between 9-13%.
authors.affiliation: Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, St, Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK. gareth.evans@cmft.nhs.uk.
authors.forename: D Gareth R
authors.initials: DG
authors.lastname: Evans
authors.forename: Susan M
authors.initials: SM
authors.lastname: Huson
authors.forename: Jillian M
authors.initials: JM
authors.lastname: Birch