Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1.

摘要: Juvenile myelomonocytic leukemia (JMML) is a pediatric myelodysplastic syndrome that associated with neurofibromatosis, type 1 (NF1). The NF1 tumor suppressor gene encodes neurofibromin, which regulates the growth of immature myeloid cells by accelerating guanosine triphosphate hydrolysis on Ras proteins. purpose this study was to determine if involved in pathogenesis JMML children without clinical diagnosis NF1. An vitro transcription and translation system used screen marrows from 20 for mutations resulted truncated protein. Single-stranded conformational polymorphism analysis detect RAS point these samples. We confirmed three leukemias, one also showed loss normal allele. mutation detected tissue only patient tested suggests may be presenting feature some children. Activating were found four patients; as expected, none samples harbored mutations. Because 10% 14% have NF1, data are consistent existence approximately 30% cases.