Homozygous Inactivation of theNF1Gene in Bone Marrow Cells from Children with Neurofibromatosis Type 1 and Malignant Myeloid Disorders
Open Access
- 12 June 1997
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 336 (24) , 1713-1720
- https://doi.org/10.1056/nejm199706123362404
Abstract
The risk of malignant myeloid disorders in young children with neurofibromatosis type 1 is 200 to 500 times the normal risk. The gene for neurofibromatosis type 1 (NF1) encodes neurofibromin, a protein that negatively regulates signals transduced by Ras proteins. Genetic and biochemical data support the hypothesis that NF1 functions as a tumor-suppressor gene in immature myeloid cells, but inactivation of both NF1 alleles has not been demonstrated in leukemic cells from patients with neurofibromatosis type 1.Keywords
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