Neurofibromatosis type 1 and associated malignancies.
Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurocutaneous disorder with a predisposition to the development of benign and malignant tumors. Mutations in the NF1 gene result in loss of function of neurofibromin, a guanosine triphosphatase-activating protein that helps maintain the proto-oncogene Ras in its inactive form. Loss of neurofibromin results in increased proliferation and tumorigenesis. As a result, people with NF1 are at increased risk for the development of nervous and non-nervous system malignancies. Malignancy is a major source of morbidity and mortality in NF1. The natural history of NF1-associated malignancies is often different than that of their sporadic counterparts and, as such, management strategies need to be adjusted accordingly.
Division of Child Neurology, Department of Pediatrics, Weill Cornell Medical College, New York-Presbyterian Hospital, 525 East 68th Street, Box 91, New York, NY 10065, USA. kay2003@med.cornell.edu
Kaleb
K
Yohay
D000818:Animals; D001943:Breast Neoplasms / Q000150:complications*; D006801:Humans; D007938:Leukemia / Q000150:complications*; D009423:Nervous System Neoplasms / Q000145:classification / Q000150:complications*; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D010673:Pheochromocytoma / Q000150:complications*; D000090063:Proto-Oncogene Mas