Initial genome sequencing and analysis of multiple myeloma

Nature. 2011 Mar 24;471(7339):467-72. doi: 10.1038/nature09837.

Abstract

Multiple myeloma is an incurable malignancy of plasma cells, and its pathogenesis is poorly understood. Here we report the massively parallel sequencing of 38 tumour genomes and their comparison to matched normal DNAs. Several new and unexpected oncogenic mechanisms were suggested by the pattern of somatic mutation across the data set. These include the mutation of genes involved in protein translation (seen in nearly half of the patients), genes involved in histone methylation, and genes involved in blood coagulation. In addition, a broader than anticipated role of NF-κB signalling was indicated by mutations in 11 members of the NF-κB pathway. Of potential immediate clinical relevance, activating mutations of the kinase BRAF were observed in 4% of patients, suggesting the evaluation of BRAF inhibitors in multiple myeloma clinical trials. These results indicate that cancer genome sequencing of large collections of samples will yield new insights into cancer not anticipated by existing knowledge.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Blood Coagulation / genetics
  • CpG Islands / genetics
  • DNA Mutational Analysis
  • DNA Repair / genetics
  • Exons / genetics
  • Exosome Multienzyme Ribonuclease Complex
  • Genome, Human / genetics*
  • Genomics
  • Histones / metabolism
  • Homeodomain Proteins / genetics
  • Homeostasis / genetics
  • Humans
  • Methylation
  • Models, Molecular
  • Molecular Sequence Data
  • Multiple Myeloma / drug therapy
  • Multiple Myeloma / enzymology
  • Multiple Myeloma / genetics*
  • Multiple Myeloma / metabolism
  • Mutation / genetics*
  • NF-kappa B / metabolism
  • Oncogenes / genetics
  • Open Reading Frames / genetics
  • Protein Biosynthesis / genetics
  • Protein Conformation
  • Proto-Oncogene Proteins B-raf / antagonists & inhibitors
  • Proto-Oncogene Proteins B-raf / genetics
  • Proto-Oncogene Proteins B-raf / metabolism
  • RNA Processing, Post-Transcriptional / genetics
  • Ribonucleases / chemistry
  • Ribonucleases / genetics
  • Signal Transduction / genetics
  • Transcription, Genetic / genetics

Substances

  • Histones
  • Homeodomain Proteins
  • NF-kappa B
  • homeobox protein HOXA9
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • Exosome Multienzyme Ribonuclease Complex
  • Ribonucleases
  • DIS3 protein, human

Associated data

  • GEO/GSE26760
  • GEO/GSE26849
  • GEO/GSE26863