Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma. Homo sapiens

Natural killer/T-cell lymphoma (NKTCL) is a malignant proliferation of CD56+/cytoCD3+ lymphocytes and constitutes a heterogeneous group of aggressive lymphomas prevalent in Asian and South American populations. Molecular pathogenesis of NKTCL remains largely elusive. Here we identified somatic mutations in RNA helicase gene DDX3X. Gene expression profiling revealed an association of DDX3X mutations with activation of NF-kB and MAPK pathways. Together, our work suggests the heterogeneity of gene mutational spectrum in NKTCL. Overall design: We identified somatic mutations in RNA helicase gene DDX3X. To determine whether these mutations have influence on gene expresson, whole genome expression microarray was employed on 5 Natural killer/T-cell lymphoma patients with mutations in DDX3X and 5 patients without these mutations. The expression profile of NK cell line KAI3 was also detected on 2 samples with different mutations (E348K andA404P) and 1 wildtype sample.