RUNX1 点突变可能确定了一小部分早期未成熟 T 细胞急性淋巴细胞白血病，其可能起源于分化的 T 细胞。
RUNX1 point mutations potentially identify a subset of early immature T-cell acute lymphoblastic leukaemia that may originate from differentiated T-cells.
机构信息
Cancer Science Institute of Singapore, National University of Singapore, Singapore.
Cancer Science Institute of Singapore, National University of Singapore, Singapore; Institute of Molecular and Cell Biology, A*STAR, Singapore.
出版信息
Gene. 2014 Jul 15;545(1):111-6. doi: 10.1016/j.gene.2014.04.074. Epub 2014 May 2.
The RUNX1/AML1 gene is among the most frequently mutated genes in human leukaemia. However, its association with T-cell acute lymphoblastic leukaemia (T-ALL) remains poorly understood. In order to examine RUNX1 point mutations in T-ALL, we conducted an amplicon-based deep sequencing in 65 Southeast Asian childhood patients and 20 T-ALL cell lines, and detected RUNX1 mutations in 6 patients (9.2%) and 5 cell lines (25%). Interestingly, RUNX1-mutated T-ALL cases seem to constitute a subset of early immature T-ALL that may originate from differentiated T-cells. This result provides a deeper insight into the mechanistic basis for leukaemogenesis.
RUNX1/AML1 基因是人类白血病中最常突变的基因之一。然而，其与 T 细胞急性淋巴细胞白血病（T-ALL）的关联仍知之甚少。为了研究 T-ALL 中的 RUNX1 点突变，我们对 65 例东南亚儿童患者和 20 例 T-ALL 细胞系进行了基于扩增子的深度测序，在 6 例患者（9.2%）和 5 个细胞系（25%）中检测到 RUNX1 突变。有趣的是，RUNX1 突变的 T-ALL 病例似乎构成了早期不成熟 T-ALL 的一个亚组，可能起源于分化的 T 细胞。这一结果为白血病发生的机制基础提供了更深入的了解。
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