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.
Yohay
Kaleb
K
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
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