Genomic landscape and chronological reconstruction of driver events in multiple myeloma

Nat Commun. 2019 Aug 23;10(1):3835. doi: 10.1038/s41467-019-11680-1.

Abstract

The multiple myeloma (MM) genome is heterogeneous and evolves through preclinical and post-diagnosis phases. Here we report a catalog and hierarchy of driver lesions using sequences from 67 MM genomes serially collected from 30 patients together with public exome datasets. Bayesian clustering defines at least 7 genomic subgroups with distinct sets of co-operating events. Focusing on whole genome sequencing data, complex structural events emerge as major drivers, including chromothripsis and a novel replication-based mechanism of templated insertions, which typically occur early. Hyperdiploidy also occurs early, with individual trisomies often acquired in different chronological windows during evolution, and with a preferred order of acquisition. Conversely, positively selected point mutations, whole genome duplication and chromoplexy events occur in later disease phases. Thus, initiating driver events, drawn from a limited repertoire of structural and numerical chromosomal changes, shape preferred trajectories of evolution that are biologically relevant but heterogeneous across patients.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adult
  • Aged
  • Bayes Theorem
  • Bone Marrow / pathology
  • Carcinogenesis / genetics*
  • Chromosomes, Human / genetics
  • Chromothripsis
  • DNA Replication
  • Female
  • Genome, Human / genetics*
  • Genomics
  • Humans
  • Male
  • Middle Aged
  • Models, Genetic*
  • Multiple Myeloma / genetics*
  • Multiple Myeloma / pathology
  • Phylogeny
  • Point Mutation
  • Time Factors
  • Whole Genome Sequencing