PT  - JOURNAL ARTICLE
AU  - Evans, D G R
AU  - Baser, M E
AU  - McGaughran, J
AU  - Sharif, S
AU  - Howard, E
AU  - Moran, A
TI  - Malignant peripheral nerve sheath tumours in neurofibromatosis 1
AID  - 10.1136/jmg.39.5.311
DP  - 2002 May 01
TA  - Journal of Medical Genetics
PG  - 311--314
VI  - 39
IP  - 5
4099  - http://jmg.bmj.com/content/39/5/311.short
4100  - http://jmg.bmj.com/content/39/5/311.full
SO  - J Med Genet2002 May 01; 39
AB  - 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.