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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.


Joshua J Waterfall, Evgeny Arons, Robert L Walker, Marbin Pineda, Laura Roth, J Keith Killian, Ogan D Abaan, Sean R Davis, Robert J Kreitman, Paul S Meltzer. High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias. Nature genetics. 2014 Jan;46(1):8-10

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PMID: 24241536

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