SAMHD1 is recurrently mutated in T-cell prolymphocytic leukemia

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. Copy number variation analysis (Affymetrix SNP 6.0 and CytoHD Arrays) of 14 T-PLL patients.