A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5

Blood Cancer J. 2018 Mar 21;8(3):35. doi: 10.1038/s41408-018-0062-y.

Abstract

Multiple myeloma (MM) is a disease of copy number variants (CNVs), chromosomal translocations, and single-nucleotide variants (SNVs). To enable integrative studies across these diverse mutation types, we developed a capture-based sequencing platform to detect their occurrence in 465 genes altered in MM and used it to sequence 95 primary tumor-normal pairs to a mean depth of 104×. We detected cases of hyperdiploidy (23%), deletions of 1p (8%), 6q (21%), 8p (17%), 14q (16%), 16q (22%), and 17p (4%), and amplification of 1q (19%). We also detected IGH and MYC translocations near expected frequencies and non-silent SNVs in NRAS (24%), KRAS (21%), FAM46C (17%), TP53 (9%), DIS3 (9%), and BRAF (3%). We discovered frequent mutations in IGLL5 (18%) that were mutually exclusive of RAS mutations and associated with increased risk of disease progression (p = 0.03), suggesting that IGLL5 may be a stratifying biomarker. We identified novel IGLL5/IGH translocations in two samples. We subjected 15 of the pairs to ultra-deep sequencing (1259×) and found that although depth correlated with number of mutations detected (p = 0.001), depth past ~300× added little. The platform provides cost-effective genomic analysis for research and may be useful in individualizing treatment decisions in clinical settings.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Biomarkers, Tumor
  • DNA Copy Number Variations
  • Gene Expression
  • Genes, myc
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Immunoglobulin Heavy Chains / genetics*
  • Immunoglobulin Light Chains, Surrogate / genetics*
  • Kaplan-Meier Estimate
  • Membrane Proteins / genetics
  • Multiple Myeloma / genetics*
  • Point Mutation*
  • Polymorphism, Single Nucleotide
  • Prognosis
  • Translocation, Genetic*

Substances

  • Biomarkers, Tumor
  • DERL3 protein, human
  • Immunoglobulin Heavy Chains
  • Immunoglobulin Light Chains, Surrogate
  • Membrane Proteins