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

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.

SUBMITTER: Waterfall JJ

PROVIDER: S-EPMC3905739 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature

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

Waterfall Joshua J JJ Arons Evgeny E Walker Robert L RL Pineda Marbin M Roth Laura L Killian J Keith JK Abaan Ogan D OD Davis Sean R SR Kreitman Robert J RJ Meltzer Paul S PS

Nature genetics 20131117 1

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. ...[more]

PMID: 24241536

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