Detecting Primary KIT Mutations in Presurgical Plasma of Patients with Gastrointestinal Stromal Tumor
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Updated: Mar 21, 2026
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
Guhyun Kang1, Byeong Seok Sohn2, Jung-Soo Pyo3
1Department of Pathology, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
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.
