title: Malignant peripheral nerve sheath tumors in neurofibromatosis 1.
abstract: One of the most clinically aggressive cancers associated with neurofibromatosis 1 (NF1) is the malignant peripheral nerve sheath tumor (MPNST). To determine the incidence and relative risk (RR) of MPNSTs in individuals with NF1, 1,475 individuals with NF1 were included from a cohort of patients examined by a single experienced geneticist from 1977 to 1996. The end points were incidence of MPNST, relative risk of MPNST, and relative risk associated with specific NF1 physical findings. Thirty-four individuals were identified with MPNST (2%). The relative risk of MPNST was higher than expected with an RR value of 113 (95% confidence interval [CI] = 78-158). The average 10-year annual incidence of MPNST between the second and fifth decade of life was roughly the same with a range of 0.0013 and 0.0068 MPNST per patient year. Most lesions occurred in the limbs (n = 18; 53%), and those with limb lesions survived longer than those with nonlimb MPNSTs. Pain associated with a mass was the greatest risk factor associated with MPNST development (RR = 31.4; 95% CI = 13.2-75.1). Further biological and epidemiological studies are needed to determine other factors that influence the risk of MPNST development in individuals affected with NF1. Am. J. Med. Genet. 93:388-392, 2000. Published 2000 Wiley-Liss, Inc.
authors.affiliation: Division of Pediatric Hematology-Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
authors.forename: A A
authors.initials: AA
authors.lastname: King
authors.forename: M R
authors.initials: MR
authors.lastname: Debaun
authors.forename: V M
authors.initials: VM
authors.lastname: Riccardi
authors.forename: D H
authors.initials: DH
authors.lastname: Gutmann
mesh_terms: D000293:Adolescent; D000328:Adult; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008297:Male; D018317:Nerve Sheath Neoplasms / Q000150:complications*; D009456:Neurofibromatosis 1 / Q000150:complications*; D012307:Risk Factors; D017741:Survivors