Article
Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1.
Haematologica - 1 Feb 2010
Steinemann Doris, Arning Larissa, Praulich Inka, Stuhrmann Manfred, Hasle Henrik, Stary Jan, Schlegelberger Brigitte, Niemeyer Charlotte M, Flotho Christian
Abstract excerpt
Children with neurofibromatosis type 1 (NF-1), being constitutionally deficient for one allele of the NF1 gene, are at greatly increased risk of juvenile myelomonocytic leukemia (JMML). NF1 is a negative regulator of RAS pathway activity, which has a central role in JMML. To further clarify the role of biallelic NF1 gene inactivation in the pathogenesis of JMML, we investigated the somatic NF1 lesion in 10...
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