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Nat Genet. 2014 Jan;46(1):8-10. doi: 10.1038/ng.2828. Epub 2013 Nov 17.

High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias.

Author information

1
Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), US National Institutes of Health (NIH), Bethesda, Maryland, USA.
2
Laboratory of Molecular Biology, CCR, NCI, US NIH, Bethesda, Maryland, USA.

Abstract

To understand the genetic mechanisms driving variant and IGHV4-34-expressing hairy-cell leukemias, we performed whole-exome sequencing of leukemia samples from ten affected individuals, including six with matched normal samples. We identified activating mutations in the MAP2K1 gene (encoding MEK1) in 5 of these 10 samples and in 10 of 21 samples in a validation set (overall frequency of 15/31), suggesting potential new strategies for treating individuals with these diseases.

PMID:
24241536
PMCID:
PMC3905739
DOI:
10.1038/ng.2828
[Indexed for MEDLINE]
Free PMC Article

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