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

With the whole genome SNP array information obtained from tumor and matched normal control, we could evaluate the acquired copy number alterations (CNAs) and uniparental disomies (UPDs) . Here we identified somatic mutations by whole-exome sequencing in 25 NKTCL patients and extended validation through targeted sequencing in an additional 80 cases. Overall design: To detect acquired CNVs and UPDs in NKT patients, we genotyped both tumor and matched normal samples.