ORIGINAL ARTICLE

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

D G R Evans¹, M E Baser², J McGaughran¹, S Sharif¹, E Howard¹, A Moran³

¹ University Department of Medical Genetics, St Mary's Hospital, Manchester M13 0JH, UK
² Los Angeles, California, USA
³ Centre for Cancer Epidemiology, Christie Hospital, Manchester M20 9BX, UK

Correspondence to:
Correspondence to:
Professor D G R Evans, University Department of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK;
Gevans{at}central.cmht.nwest.nhs.uk

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.

Keywords: neurofibromatosis 1; malignant peripheral nerve sheath tumours

Abbreviations: NF1, neurofibromatosis 1; MPNST, malignant peripheral nerve sheath tumours

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