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, 39 (5), 311-4

Malignant Peripheral Nerve Sheath Tumours in Neurofibromatosis 1

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Case Reports

Malignant Peripheral Nerve Sheath Tumours in Neurofibromatosis 1

D G R Evans et al. J Med Genet.

Abstract

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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References

    1. J Neurol Neurosurg Psychiatry. 2000 Mar;68(3):353-7 - PubMed
    1. Cancer. 1963 Aug;16:1003-14 - PubMed
    1. Am J Med Genet. 2000 Aug 28;93(5):388-92 - PubMed
    1. Ann Surg. 1970 Mar;171(3):419-28 - PubMed
    1. Br J Ophthalmol. 1969 Dec;53(12):793-8 - PubMed

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