Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis: Impact of Family History

J Pediatr Hematol Oncol. 2018 Aug;40(6):e359-e363. doi: 10.1097/MPH.0000000000001156.


Objective: The main objective of this study was to determine if family history of malignant peripheral nerve sheath tumor (MPNST) increases risk of developing an MPNST in patients with neurofibromatosis-1 (NF-1).

Materials and methods: Individuals with NF-1 registered with the Children's Tumor Foundation's Neurofibromatosis Registry were emailed an anonymous 15-minute survey with regard to personal and family history of NF-1, MPNST, ages of onset, and symptomatology. Participation was voluntary and information was self-reported.

Results: The survey was sent to 4801 registrants, 878 responded. Presence of a family history of MPNST was found to be a risk factor for the development of MPNST; 19.4% of respondents confirming a family history of MPNST developed MPNST compared with 7.5% of respondents with no family history (odds ratio, 2.975; 95% confidence interval, 1.232-7.187; P=0.021). NF-1 patients with a positive family history developed MPNST at a younger age than those with no family history (8.3% vs. 0.5% P=0.003 and 13.9% vs. 2.4% P=0.003, for onset before 10 and 20, respectively). In the MPNST population with a known family history, onset prior to age 10 was significantly more prevalent (42.9% vs. 7% P=0.029).

Conclusions: These results suggest a positive family history of MPNST represents a risk factor for the development and early onset of MPNST in individuals with NF-1.

Publication types

  • Clinical Trial
  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child
  • Child, Preschool
  • Family*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Medical History Taking
  • Middle Aged
  • Neurofibromatosis 1* / epidemiology
  • Neurofibromatosis 1* / genetics
  • Neurofibromatosis 1* / pathology
  • Neurofibrosarcoma* / epidemiology
  • Neurofibrosarcoma* / genetics
  • Neurofibrosarcoma* / pathology
  • Registries*
  • Risk Factors