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.
- neurofibromatosis 1
- malignant peripheral nerve sheath tumours
- NF1, neurofibromatosis 1
- MPNST, malignant peripheral nerve sheath tumours
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Malignant peripheral nerve sheath tumours in neurofibromatosis 1
D G R Evans, M E Baser, J McGaughran, S Sharif, E Howard, and A Moran
The Kaplan Meier curve published in the article was an analysis from birth to current age or death rather than from diagnosis. The p value attached to the curve relates to the analysis from diagnosis. The correct figure of survival from diagnosis is provided here.
Figure 1 Kaplan-Meier analysis of survival for NF1 MPNST patients and people with sporadic MPNST (Wilcoxon (Gehan) statistic, p=0.09).
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The error is much regretted
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