Whole-exome sequencing of primary plasma cell leukemia. Homo sapiens

Primary plasma cell leukemia (pPCL) is a rare and aggressive form of PC dyscrasias originating de novo without a previous phase of multiple myeloma. Here we performed whole-exome sequencing in a prospective series of 12 pPCLs and five normal matched controls, in order to study coding somatic variants and affected functional pathways. We combined such data with copy number profiles and gene expression data, to achieve a comprehensive and integrated view of the molecular landscape of pPCL. This is the first mutational screening of pPCL by next-generation sequencing and may provide a contribution to the comprehension of the pathogenetic mechanisms of this disease and of their relevance for future diagnostic and therapeutic applications.