title: Genomic studies have identified multiple mechanisms of genetic changes in Waldenström macroglobulinemia.
abstract: The pathophysiology of Waldenström macroglobulinemia (WM), a lymphoproliferative disorder characterized by lymphoplasmacytic bone marrow infiltration associated with serum IgM paraprotein, is rather unclear; however, progress has been made in recent years to better determine the genetic profile of WM tumor cells. Studies based on high-throughput genomic analyses-including single-nucleotide polymorphism array (SNPa), array-based comparative genomic hybridization, and, recently, whole-genome sequencing--have improved deciphering some of the key molecular pathways associated with WM. Beyond the discovery of the myeloid differentiation primary response gene 88 (MYD88) L265P mutation, which will help greatly in the differential characterization of WM from other B-cell low-grade lymphomas, several other mechanisms of gene deregulation were identified and mapped that recurrently pointed out nuclear factor-kappa B (NF-κB), breakpoint cluster region (BCR), and Toll-like receptor (TLR) signaling pathways as potential targets for a better understanding of the physiopathology of WM and for future drug development. Herein, we summarize the current knowledge of the genomic patterns of WM to highlight its complexity.
authors.affiliation: Service d'Hématologie-Immunologie-Cytogénétique, Valenciennes, France.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Poulain
authors.forename: Charles
authors.initials: C
authors.lastname: Herbaux
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Bertrand
authors.forename: Audrey
authors.initials: A
authors.lastname: Decambron
authors.forename: Guillemette
authors.initials: G
authors.lastname: Fouquet
authors.forename: Eileen
authors.initials: E
authors.lastname: Boyle
authors.forename: Julie
authors.initials: J
authors.lastname: Gay
authors.forename: Salomon
authors.initials: S
authors.lastname: Manier
authors.forename: Patrick
authors.initials: P
authors.lastname: Duthilleul
authors.forename: Christophe
authors.initials: C
authors.lastname: Roumier
authors.forename: Xavier
authors.initials: X
authors.lastname: Leleu
mesh_terms: D044127:Epigenesis, Genetic; D055106:Genome-Wide Association Study; D023281:Genomics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009154:Mutation; D053594:Myeloid Differentiation Factor 88 / Q000235:genetics; D024182:Uniparental Disomy; D008258:Waldenstrom Macroglobulinemia / Q000235:genetics*
chemical_list: D053594:Myeloid Differentiation Factor 88