Detection and Quantification of KIT Mutations in ctDNA by Plasma Safe-SeqS

Adv Exp Med Biol. 2016:924:187-189. doi: 10.1007/978-3-319-42044-8_34.

Abstract

We have designed a highly sensitive assay based on the Safe-SeqS technology to detect de novo mutations in the KIT gene and tested its performance. This assay was applied to plasma samples of GIST patients before and after treatment with regorafenib (GRID III trial) and mutations at known and novel sites of potential secondary resistance were identified.

Keywords: GIST; KIT; NGS; Safe-SeqS; Secondary resistance; ctDNA.

MeSH terms

  • Antineoplastic Agents / therapeutic use
  • DNA Mutational Analysis / methods*
  • Gastrointestinal Neoplasms / blood
  • Gastrointestinal Neoplasms / drug therapy
  • Gastrointestinal Neoplasms / genetics
  • Gastrointestinal Stromal Tumors / blood
  • Gastrointestinal Stromal Tumors / drug therapy
  • Gastrointestinal Stromal Tumors / genetics
  • Humans
  • Imatinib Mesylate / therapeutic use
  • Indoles / therapeutic use
  • Mutation*
  • Outcome Assessment, Health Care / methods
  • Phenylurea Compounds / therapeutic use
  • Proto-Oncogene Proteins c-kit / genetics*
  • Pyridines / therapeutic use
  • Pyrroles / therapeutic use
  • Reproducibility of Results
  • Sunitinib

Substances

  • Antineoplastic Agents
  • Indoles
  • Phenylurea Compounds
  • Pyridines
  • Pyrroles
  • regorafenib
  • Imatinib Mesylate
  • Proto-Oncogene Proteins c-kit
  • Sunitinib