title: Genomic Aberrations in Multiple Myeloma.
abstract: Multiple myeloma (MM) is a genetically complex disease. The past few years have seen an evolution in cancer research with the emergence of next-generation sequencing (NGS), enabling high throughput sequencing of tumors-including whole exome, whole genome, RNA, and single-cell sequencing as well as genome-wide association study (GWAS). A few inherited variants have been described, counting for some cases of familial disease. Hierarchically, primary events in MM can be divided into hyperdiploid (HDR) and nonhyperdiploid subtypes. HRD tumors are characterized by trisomy of chromosomes 3, 5, 7, 9, 11, 15, 19, and/or 21. Non-HRD tumors harbor IGH translocations, mainly t(4;14), t(6;14), t(11;14), t(14;16), and t(14;20). Secondary events participate to the tumor progression and consist in secondary translocation involving MYC, copy number variations (CNV) and somatic mutations (such as mutations in KRAS, NRAS, BRAF, P53). Moreover, the dissection of clonal heterogeneity helps to understand the evolution of the disease. The following review provides a comprehensive review of the genomic landscape in MM.
authors.affiliation: Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, USA.|Department of Hematology, Lille Hospital University, Lille, France.
authors.forename: Salomon
authors.initials: S
authors.lastname: Manier
authors.affiliation: Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, USA.
authors.forename: Karma
authors.initials: K
authors.lastname: Salem
authors.affiliation: Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, USA.
authors.forename: Siobhan V
authors.initials: SV
authors.lastname: Glavey
authors.affiliation: Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, USA.|Department of Hematology, CREA Laboratory, ASST-Spedali Civili di Brescia, Brescia, BS, Italy.
authors.forename: Aldo M
authors.initials: AM
authors.lastname: Roccaro
authors.affiliation: Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, USA. irene_ghobrial@dfci.harvard.edu.
authors.forename: Irene M
authors.initials: IM
authors.lastname: Ghobrial
mesh_terms: D002869:Chromosome Aberrations; D006801:Humans; D009101:Multiple Myeloma / Q000235:genetics*
keywords: Clonal evolution; Genomics; Myeloma; Next-generation sequencing