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High prevalence of MAP2K1 mutations in variant and IGHV4-34–expressing hairy-cell leukemias
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High prevalence of MAP2K1 mutations in variant and IGHV4-34–expressing hairy-cell leukemias
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High prevalence of MAP2K1 mutations in variant and IGHV4-34–expressing hairy-cell leukemias
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Journal Article
High prevalence of MAP2K1 mutations in variant and IGHV4-34–expressing hairy-cell leukemias
2014
Overview
Paul Meltzer and colleagues report the results of an exome sequencing study of variant and IGHV4-34–expressing hairy-cell leukemias. They identify a high frequency of activating
MAP2K1
mutations in these malignancies, suggesting potential therapeutic strategies.
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Cancer
/ Gene Rearrangement, B-Lymphocyte, Heavy Chain - genetics
/ Humans
/ Immunoglobulin Heavy Chains - genetics
/ Immunoglobulin Variable Region - genetics
/ Kinases
/ Leukemia, Hairy Cell - genetics
/ MAP Kinase Kinase 1 - genetics
/ Mitogen-activated protein kinases
/ Mutation
/ Ribonucleoproteins - genetics
