Genomic Analysis of Primary Plasma Cell Leukemia

Primary plasma cell leukemia (pPCL) is a rare and aggressive form of multiple myeloma (MM) that is characterized by poor overall survival despite advances in anti-MM therapy. The disease biology as well as molecular mechanisms that distinguish pPCL from non-pPCL MM remain poorly understood. In an attempt to identify key biological mechanisms that result in the aggressive pPCL phenotype we performed whole exome sequencing in 23 patients with newly diagnosed pPCL. The results reveal an enrichment of complex structural changes and high risk mutational patterns in pPCL that explain, at least in part, the aggressive nature of the disease. In particular pPCL patients with traditional low risk features such as translocation t(11;14) or hyperdiploidy accumulated adverse risk genetic events that could account for the poor outcome in this group.]]>
Inclusion Criteria Newly diagnosed pPCL patients that presented to the Myeloma Center UAMS Available sequencing data Minimum age of 18 Exclusion Criteria Patients who do not have pPCL Patients not treated at the Myeloma Center, UAMS ]]>
2003-2018: Patients presented to the University of Arkansas for Medical Sciences with newly diagnosed primary plasma cell leukemia. Samples from 138+ sorted bone marrow aspirates were stored. 2017-2019: Available samples from patients with primary plasma cell leukemia were retrieved (n=23), sequenced (WES) and analyzed. ]]>