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

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. RNA sequencing (Illumina HiSeq 2500) of 10 index patients compared to 5 healthy donors (controls).