Genomic Characterization of HIV-Associated Plasmablastic Lymphoma Identifies Pervasive Mutations in the JAK–STAT Pathway
Zhaoqi Liu, Ioan Filip, Karen Gómez, Dewaldt Engelbrecht, Shabnum Meer, Pooja N. Lalloo, Pareen Patel, Yvonne Perner, Junfei Zhao, Jiguang Wang, Laura Pasqualucci, Raúl Rabadán, Pascale Willem
Abstract
). Comparative analysis with other B-cell malignancies uncovered PBL-specific somatic mutations and transcriptional programs. We also found recurrent copy number gains encompassing the CD44 gene (37%), which encodes for a cell surface receptor involved in lymphocyte activation and homing, and was found expressed at high levels in all tested cases, independent of genetic alterations. These findings have implications for the understanding of the pathogenesis of this disease and the development of personalized medicine approaches.
Topics & Concepts
BiologyKRASLymphomaExome sequencingPrimary immunodeficiencyCancer researchPlasmablastic lymphomaImmunologyGeneticsGeneMutationImmune systemViral-associated cancers and disordersLymphoma Diagnosis and TreatmentChronic Lymphocytic Leukemia Research