A review of genomic testing and SDH- deficiency in gastrointestinal stromal tumors: Getting to the GIST

Genomic testing is critical for gastrointestinal stromal tumors (GISTs) to improve diagnosis, treatment, and monitoring, especially for SDH-deficient GISTs. Mutations in genes like KIT and PDGFRA have transformed GIST treatment. Comprehensive genomic analysis and increased awareness are vital for accurate diagnoses and tailored management plans, even with negative germline testing. All individuals with SDH-deficient GIST need monitoring for additional SDHx-related tumors.