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Nature Research, Nature Genetics, 1(46), p. 8-10, 2013

DOI: 10.1038/ng.2828

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

Journal article published in 2013 by Joshua J. Waterfall, Evgeny Arons, Robert L. Walker ORCID, Marbin Pineda, Laura Roth, J. Keith Killian, Ogan D. Abaan, Sean R. Davis ORCID, Robert J. Kreitman, Paul S. Meltzer
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.