An Old Dog Has a New Trick: Somatic Exonic Deletions in RUNX1 Are Frequent in AML.
An Old Dog Has a New Trick: Somatic Exonic Deletions in RUNX1 Are Frequent in AML.
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老狗有了新把戏：RUNX1 中的体细胞外显子缺失在 AML 中很常见。
DOI：
10.1158/1078-0432.ccr-23-1065
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发表时间：
2023
期刊：
影响因子：
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通讯作者：
Stengel,KristyR
中科院分区：
文献类型：
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作者：
Chakraborty,Joyeeta;Stengel,KristyR
急性髓系白血病(AML)的RUNX1突变包括错义、无义和移码突变，而RUNX1-FPDMM的生殖系RUNX1变异还包括大的外显子缺失。替代的变异检测方法显示，RUNX1中大的外显子缺失在散发性AML中也很常见，这对患者分层和治疗决策具有意义。参见Eriks son等人的相关文章，第2826页
Somatic loss-of-functionRUNX1mutations in acute myeloid leukemia (AML) include missense, nonsense, and frameshift mutations, whereas germlineRUNX1variants inRUNX1-FPDMM also include large exonic deletions. Alternative variant detection approaches revealed that large exonic deletions inRUNX1are also common in sporadic AML, which has implications for patient stratification and therapeutic decision-making.See related article by Eriksson et al., p. 2826