Molecular diagnosis & therapy · 2016
Detecting Primary KIT Mutations in Presurgical Plasma of Patients with Gastrointestinal Stromal Tumor.
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Kang Guhyun, Sohn Byeong Seok, Pyo Jung-Soo, Kim Jung Yeon, Lee Boram, Kim Kyoung-Mee
Аннотация
INTRODUCTION: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSION: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSION: 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.