Malignant peripheral nerve sheath tumours in neurofibromatosis 1. Issue 5 (1st May 2002)

• Record Type: Journal Article
• Authors: Evans, D G R; Baser, M E; McGaughran, J; Sharif, S; Howard, E; Moran, A
• Is Part Of: Journal of medical genetics. Volume 39:Issue 5(2002)
• Page Start: 311
• Page End: 314
• Publication Date: 2002-05-01
• Subjects: neurofibromatosis 1 -- malignant peripheral nerve sheath tumours; NF1, neurofibromatosis 1 -- MPNST, malignant peripheral nerve sheath tumours; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.39.5.311
• Languages: English
• ISSNs: 1468-6244

Abstract

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.