RT Journal Article
SR Electronic
T1 Malignant peripheral nerve sheath tumours in neurofibromatosis 1
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 311
OP 314
DO 10.1136/jmg.39.5.311
VO 39
IS 5
A1 D G R Evans
A1 M E Baser
A1 J McGaughran
A1 S Sharif
A1 E Howard
A1 A Moran
YR 2002
UL http://jmg.bmj.com/content/39/5/311.abstract
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.