title: Detection and Quantification of KIT Mutations in ctDNA by Plasma Safe-SeqS.
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.
authors.affiliation: Sysmex Inostics GmbH, Falkenried 88, 20251, Hamburg, Germany. Fredebohm.Johannes@sysmex-inostics.com.
authors.forename: Johannes
authors.initials: J
authors.lastname: Fredebohm
authors.affiliation: Sysmex Inostics GmbH, Falkenried 88, 20251, Hamburg, Germany.
authors.forename: Daniel H
authors.initials: DH
authors.lastname: Mehnert
authors.affiliation: Sysmex Inostics GmbH, Falkenried 88, 20251, Hamburg, Germany.
authors.forename: Ann-Kathrin
authors.initials: AK
authors.lastname: Löber
authors.affiliation: Sysmex Inostics GmbH, Falkenried 88, 20251, Hamburg, Germany.
authors.forename: Frank
authors.initials: F
authors.lastname: Holtrup
authors.affiliation: Sysmex Inostics GmbH, Falkenried 88, 20251, Hamburg, Germany.
authors.forename: Vanessa
authors.initials: V
authors.lastname: van Rahden
authors.affiliation: Sysmex Inostics GmbH, Falkenried 88, 20251, Hamburg, Germany.
authors.forename: Philipp
authors.initials: P
authors.lastname: Angenendt
authors.affiliation: Sysmex Inostics GmbH, Falkenried 88, 20251, Hamburg, Germany. Diehl.Frank@sysmex-inostics.com.
authors.forename: Frank
authors.initials: F
authors.lastname: Diehl
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D004252:DNA Mutational Analysis / Q000379:methods*; D005770:Gastrointestinal Neoplasms / Q000097:blood / Q000188:drug therapy / Q000235:genetics; D046152:Gastrointestinal Stromal Tumors / Q000097:blood / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D000068877:Imatinib Mesylate / Q000627:therapeutic use; D007211:Indoles / Q000627:therapeutic use; D009154:Mutation; D017063:Outcome Assessment, Health Care / Q000379:methods; D010671:Phenylurea Compounds / Q000627:therapeutic use; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D011725:Pyridines / Q000627:therapeutic use; D011758:Pyrroles / Q000627:therapeutic use; D015203:Reproducibility of Results; D000077210:Sunitinib
chemical_list: D000970:Antineoplastic Agents; D007211:Indoles; D010671:Phenylurea Compounds; D011725:Pyridines; D011758:Pyrroles; C559147:regorafenib; D000068877:Imatinib Mesylate; D019009:Proto-Oncogene Proteins c-kit; D000077210:Sunitinib
keywords: GIST; KIT; NGS; Safe-SeqS; Secondary resistance; ctDNA