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.
Publication types
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Research Support, N.I.H., Intramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Connectin / genetics
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DNA-Binding Proteins
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Gene Rearrangement, B-Lymphocyte, Heavy Chain / genetics*
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Humans
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Immunoglobulin Heavy Chains / genetics*
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Immunoglobulin Variable Region / genetics
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Leukemia, Hairy Cell / genetics*
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MAP Kinase Kinase 1 / genetics*
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Mutation Rate*
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Nuclear Proteins / genetics
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Ribonucleoproteins / genetics
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Splicing Factor U2AF
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Transcription Factors / genetics
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Tumor Suppressor Protein p53 / genetics
Substances
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ARID1A protein, human
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Connectin
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DNA-Binding Proteins
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Immunoglobulin Heavy Chains
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Immunoglobulin Variable Region
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Nuclear Proteins
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Ribonucleoproteins
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Splicing Factor U2AF
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TP53 protein, human
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TTN protein, human
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Transcription Factors
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Tumor Suppressor Protein p53
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U2AF1 protein, human
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MAP Kinase Kinase 1
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MAP2K1 protein, human
Associated data
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RefSeq/NM_001025203
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RefSeq/NM_001126114
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RefSeq/NM_002755
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RefSeq/NM_003319
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RefSeq/NM_006015