Elevated risk for MPNST in NF1 microdeletion patients

Am J Hum Genet. 2003 May;72(5):1288-92. doi: 10.1086/374821. Epub 2003 Mar 26.


An NF1 microdeletion is the single most commonly reported mutation in individuals with neurofibromatosis type 1 (NF1). Individuals with an NF1 microdeletion have, as a group, more neurofibromas at a younger age than the group of all individuals with NF1. We report that NF1 microdeletion individuals additionally have a substantially higher lifetime risk for the development of malignant peripheral nerve sheath tumors than individuals with NF1 who do not have an NF1 microdeletion. This should be taken into account in the medical follow-up of individuals with an NF1 microdeletion.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Comorbidity
  • Humans
  • In Situ Hybridization, Fluorescence
  • Middle Aged
  • Nerve Sheath Neoplasms / classification
  • Nerve Sheath Neoplasms / genetics*
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1 / genetics*
  • Polymerase Chain Reaction
  • Risk
  • Risk Assessment
  • Sequence Deletion / genetics*


  • Neurofibromin 1