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J Med Genet. 2002 May; 39(5): 311–314.
PMCID: PMC1735122

Malignant peripheral nerve sheath tumours in neurofibromatosis 1


Background: Cross sectional studies have shown that 1-2% of patients with neurofibromatosis 1 (NF1) develop malignant peripheral nerve sheath tumours (MPNST). However, no population based longitudinal studies have assessed lifetime risk.

Methods: NF1 patients with MPNST were ascertained from two sources for our north west England population of 4.1 million in the 13 year period 1984-1996: the North West Regional NF1 Register and review of notes of patients with MPNST in the North West Regional Cancer Registry.

Results: Twenty-one NF1 patients developed MPNST, equivalent to an annual incidence of 1.6 per 1000 and a lifetime risk of 8-13%. There were 37 patients with sporadic MPNST. The median age at diagnosis of MPNST in NF1 patients was 26 years, compared to 62 years in patients with sporadic MPNST (p<0.001). In Kaplan-Meier analyses, the five year survival from diagnosis was 21% for NF1 patients with MPNST, compared to 42% for sporadic cases of MPNST (p=0.09). One NF1 patient developed two separate MPNST in the radiation field of a previous optic glioma.

Conclusion: The lifetime risk of MPNST in NF1 is much higher than previously estimated and warrants careful surveillance and a low threshold for investigation.

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Selected References

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  • Huson SM, Compston DA, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet. 1989 Nov;26(11):704–711. [PMC free article] [PubMed]
  • Sørensen SA, Mulvihill JJ, Nielsen A. Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms. N Engl J Med. 1986 Apr 17;314(16):1010–1015. [PubMed]
  • King AA, Debaun MR, Riccardi VM, Gutmann DH. Malignant peripheral nerve sheath tumors in neurofibromatosis 1. Am J Med Genet. 2000 Aug 28;93(5):388–392. [PubMed]
  • Poyhonen M, Niemela S, Herva R. Risk of malignancy and death in neurofibromatosis. Arch Pathol Lab Med. 1997 Feb;121(2):139–143. [PubMed]
  • Harris M, Hartley AL, Blair V, Birch JM, Banerjee SS, Freemont AJ, McClure J, McWilliam LJ. Sarcomas in north west England: I. Histopathological peer review. Br J Cancer. 1991 Aug;64(2):315–320. [PMC free article] [PubMed]
  • Greager JA, Reichard KW, Campana JP, DasGupta TK. Malignant schwannoma of the head and neck. Am J Surg. 1992 Apr;163(4):440–442. [PubMed]
  • Gardner RJ, Mungall AJ, Dunham I, Barber JC, Shield JP, Temple IK, Robinson DO. Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q. J Med Genet. 1999 Mar;36(3):192–196. [PMC free article] [PubMed]
  • Huson SM, Compston DA, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling. J Med Genet. 1989 Nov;26(11):712–721. [PMC free article] [PubMed]
  • Ducatman BS, Scheithauer BW, Piepgras DG, Reiman HM, Ilstrup DM. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer. 1986 May 15;57(10):2006–2021. [PubMed]
  • Wanebo JE, Malik JM, VandenBerg SR, Wanebo HJ, Driesen N, Persing JA. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 28 cases. Cancer. 1993 Feb 15;71(4):1247–1253. [PubMed]
  • Doorn PF, Molenaar WM, Buter J, Hoekstra HJ. Malignant peripheral nerve sheath tumors in patients with and without neurofibromatosis. Eur J Surg Oncol. 1995 Feb;21(1):78–82. [PubMed]
  • Das Gupta TK, Brasfield RD. Solitary malignant schwannoma. Ann Surg. 1970 Mar;171(3):419–428. [PMC free article] [PubMed]
  • Ghosh BC, Ghosh L, Huvos AG, Fortner JG. Malignant schwannoma. A clinicopathologic study. Cancer. 1973 Jan;31(1):184–190. [PubMed]
  • Loree TR, North JH, Jr, Werness BA, Nangia R, Mullins AP, Hicks WL., Jr Malignant peripheral nerve sheath tumors of the head and neck: analysis of prognostic factors. Otolaryngol Head Neck Surg. 2000 May;122(5):667–672. [PubMed]
  • Listernick R, Charrow J, Greenwald MJ, Esterly NB. Optic gliomas in children with neurofibromatosis type 1. J Pediatr. 1989 May;114(5):788–792. [PubMed]
  • Hoyt WF, Baghdassarian SA. Optic glioma of childhood. Natural history and rationale for conservative management. Br J Ophthalmol. 1969 Dec;53(12):793–798. [PMC free article] [PubMed]
  • Ferner RE, Lucas JD, O'Doherty MJ, Hughes RA, Smith MA, Cronin BF, Bingham J. Evaluation of (18)fluorodeoxyglucose positron emission tomography ((18)FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry. 2000 Mar;68(3):353–357. [PMC free article] [PubMed]

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