Panel sequencing for clinically oriented variant screening and copy number detection in 142 untreated multiple myeloma patients

Blood Cancer J. 2016 Feb 26;6(2):e397. doi: 10.1038/bcj.2016.1.

Abstract

We employed a customized Multiple Myeloma (MM)-specific Mutation Panel (M(3)P) to screen a homogenous cohort of 142 untreated MM patients for relevant mutations in a selection of disease-specific genes. M(3)Pv2.0 includes 77 genes selected for being either actionable targets, potentially related to drug-response or part of known key pathways in MM biology. We identified mutations in potentially actionable genes in 49% of patients and provided prognostic evidence of STAT3 mutations. This panel may serve as a practical alternative to more comprehensive sequencing approaches, providing genomic information in a timely and cost-effective manner, thus allowing clinically oriented variant screening in MM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Antineoplastic Agents / pharmacology
  • Antineoplastic Agents / therapeutic use
  • Clonal Evolution / genetics
  • DNA Copy Number Variations*
  • DNA Mutational Analysis
  • Follow-Up Studies
  • Genetic Heterogeneity
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Middle Aged
  • Multiple Myeloma / drug therapy
  • Multiple Myeloma / genetics*
  • Multiple Myeloma / metabolism
  • Multiple Myeloma / mortality
  • Mutation*
  • Prognosis
  • Signal Transduction / drug effects

Substances

  • Antineoplastic Agents