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Updated: Aug 17, 2026

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Published on: September 30, 2016
Gastrointestinal stromal tumors (GISTs): point mutations matter in management, a review
Peter J Oppelt1,2, Angela C Hirbe1,2, Brian A Van Tine1,2
1Division of Medical Oncology, Washington University in St. Louis, St. Louis, MO, USA.
Abstract:
The therapeutic implications of the genomic alterations seen within the drivers of gastrointestinal stromal tumors (GIST) are among the best understood in all of solid tumors. Sequencing of cKIT and PDGFRα should be considered standard practice for the treatment of GIST patients. In this article, we will review the common mutations and how they are utilized in clinical management. In addition, we will review the rare D842V PDGFRα mutation and the diverse molecular group that lacks a mutation in either cKIT or PDGFRα (wild-type GIST) which are best treated on clinical trial. Finally, we will look forward at the future therapies that are ever evolving for management of GIST. Taken together, the scientific advances in understanding the molecular basis of GIST validates the importance of knowing and understanding the mutations that are present in any one patient.
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