Prognosis

The mortality rate for patients with neurofibromatosis is elevated with:

• malignant peripheral nerve sheath tumours (MPNST) (1,2)
  • MPNST is the term now used to refer to malignant schwannomas, neurogenic sarcomas, malignant neurilemomas, neurofibrosarcomas and spindle cell sarcomas
  • approximately 50% of MPNSTs are associated with NF-1 and are often due to malignant transformation of neurofibromas
  • NF1 patients show an 8–13% lifetime risk of developing MPNSTs (1)
  • MPNSTs in NF1 usually arise within a preexisting plexiform neurofibroma (PNF)
  • MPNSTs in NF-1 have a male predilection and occur approximately a decade earlier than in the general population.
• central nervous system tumours

Fertility may be reduced, especially in males.

Up to 75% of affected individuals may have no complications.

Reference:

1. Frahm S et al. Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients. Neurobiol of Dis 2004;16 (1): Pages 85-91.
2. Hillier JC, Moskovic E. The soft-tissue manifestations of neurofibromatosis type 1.Clin Radiol 2005; 60 (9): 960-967