SAMHD1 is recurrently mutated in T-cell prolymphocytic leukemia [RNA-seq]. Homo sapiens

We identified novel recurrent genetic lesions in T-PLL affecting genes involved in JAK/STAT signaling (PTPRC), epigenetic regulation (PRDM2), or DNA damage repair (SAMHD1, PARP10, HERC1, HERC2). Mutations of the tumor suppressor gene SAMHD1 causing amino-acid exchanges or protein truncations as well as copy number variations in SAMHD1 were seen in 20% of cases. Overall design: RNA sequencing (Illumina HiSeq 2500) of 10 index patients compared to 5 healthy donors (controls).

我们在T细胞幼淋巴细胞白血病（T-PLL）中鉴定出新型复发性遗传病变，这些病变累及参与JAK/STAT信号通路（JAK/STAT signaling）、表观遗传调控（PRDM2）或DNA损伤修复（SAMHD1、PARP10、HERC1、HERC2）的相关基因。肿瘤抑制基因SAMHD1的突变（可导致氨基酸替换或蛋白截短）以及该基因的拷贝数变异，在20%的受试病例中被检出。实验设计概览：对10例索引患者的样本开展RNA测序（RNA sequencing），测序采用Illumina HiSeq 2500平台，并以5名健康供体作为对照进行对比分析。