title: Detecting Primary KIT Mutations in Presurgical Plasma of Patients with Gastrointestinal Stromal Tumor.
abstract: Assessment of KIT/PDGFRA mutations is essential for therapeutic decision making in patients with gastrointestinal stromal tumor (GIST). Blood-derived circulating tumor DNA can provide molecular information representative of the tumor tissue.
  
  
  
  In this study, primary tumors and matched presurgical blood samples were collected from 25 patients with localized gastric GIST, and the DNAs were analyzed for KIT and PDGFRA mutations using a next-generation sequencing platform.
  
  
  
  Sequencing of the tumors identified mutations in KIT exon 11 in 18/25 cases (72 %). The mutations were detected in 13/18 (72 %) plasma samples from the patients harboring KIT mutation in the paired GIST tissue. Identical point mutations were found in three of the presurgical plasma samples, and insertion/deletions were detected as single-base substitutions in ten cases. No mutations were detected in plasma samples from the seven patients with KIT/PDGFRA wild-type GIST.
  
  
  
  Our study demonstrates that primary KIT mutations can be detected in the presurgical plasma of patients with localized GIST; this would help clinicians reach proper diagnoses before surgery and assist them to make appropriate therapeutic decisions.
authors.affiliation: Department of Pathology, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
authors.forename: Guhyun
authors.initials: G
authors.lastname: Kang
authors.affiliation: Department of Medicine, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
authors.forename: Byeong Seok
authors.initials: BS
authors.lastname: Sohn
authors.affiliation: Department of Pathology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Jung-Soo
authors.initials: JS
authors.lastname: Pyo
authors.affiliation: Department of Pathology, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
authors.forename: Jung Yeon
authors.initials: JY
authors.lastname: Kim
authors.affiliation: Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Ilwon-ro, Gangnam-gu, Seoul, 06351, Korea.
authors.forename: Boram
authors.initials: B
authors.lastname: Lee
authors.affiliation: Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Ilwon-ro, Gangnam-gu, Seoul, 06351, Korea. kkmkys@skku.edu.
authors.forename: Kyoung-Mee
authors.initials: KM
authors.lastname: Kim
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D014408:Biomarkers, Tumor; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000097:blood / Q000235:genetics; D018450:Disease Progression; D005091:Exons; D005260:Female; D046152:Gastrointestinal Stromal Tumors / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D057234:Preoperative Period; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D047368:Tumor Burden
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; D019009:Proto-Oncogene Proteins c-kit