Characterization of 46 patient-specific BCR-ABL1 fusions and detection of SNPs upstream and downstream the breakpoints in chronic myeloid leukemia using next generation sequencing

Mol Cancer. 2015 Apr 18:14:89. doi: 10.1186/s12943-015-0363-8.

Abstract

In chronic myeloid leukemia, the identification of individual BCR-ABL1 fusions is required for the development of personalized medicine approach for minimal residual disease monitoring at the DNA level. Next generation sequencing (NGS) of amplicons larger than 1000 bp simplified and accelerated a process of characterization of patient-specific BCR-ABL1 genomic fusions. NGS of large regions upstream and downstream the individual breakpoints in BCR and ABL1 genes, respectively, also provided information about the sequence variants such are single nucleotide polymorphisms.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Fusion Proteins, bcr-abl / genetics*
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Polymorphism, Single Nucleotide / genetics*

Substances

  • Fusion Proteins, bcr-abl