高表达 MAP2K1 突变的变异型和 IGHV4-34 表达的毛细胞白血病。
High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias.
机构信息
Genetics Branch, Center for Cancer Research (CCR), National Cancer Institute (NCI), US National Institutes of Health (NIH), Bethesda, Maryland, USA.
Laboratory of Molecular Biology, CCR, NCI, US NIH, Bethesda, Maryland, USA.
出版信息
Nat Genet. 2014 Jan;46(1):8-10. doi: 10.1038/ng.2828. Epub 2013 Nov 17.
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.
为了了解驱动变体和 IGHV4-34 表达的毛细胞白血病的遗传机制，我们对 10 名受影响个体的白血病样本进行了全外显子组测序，其中包括 6 名匹配的正常样本。我们在这 10 个样本中的 5 个样本中发现了 MAP2K1 基因（编码 MEK1）的激活突变，在验证集中的 21 个样本中也发现了 10 个（总体频率为 15/31），这表明针对这些疾病患者的潜在新治疗策略。
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