Neurofibromatosis type 1 and associated malignancies

Curr Neurol Neurosci Rep. 2009 May;9(3):247-53. doi: 10.1007/s11910-009-0036-3.

Abstract

Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurocutaneous disorder with a predisposition to the development of benign and malignant tumors. Mutations in the NF1 gene result in loss of function of neurofibromin, a guanosine triphosphatase-activating protein that helps maintain the proto-oncogene Ras in its inactive form. Loss of neurofibromin results in increased proliferation and tumorigenesis. As a result, people with NF1 are at increased risk for the development of nervous and non-nervous system malignancies. Malignancy is a major source of morbidity and mortality in NF1. The natural history of NF1-associated malignancies is often different than that of their sporadic counterparts and, as such, management strategies need to be adjusted accordingly.

Publication types

  • Review

MeSH terms

  • Animals
  • Breast Neoplasms / complications*
  • Humans
  • Leukemia / complications*
  • Nervous System Neoplasms / classification
  • Nervous System Neoplasms / complications*
  • Neurofibromatosis 1 / complications*
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / genetics
  • Pheochromocytoma / complications*
  • Proto-Oncogene Mas