Case Presentation: Gastrointestinal Stromal Tumor

A 48-year-old male was initially diagnosed with KIT exon 11 mutant gastrointestinal stromal tumor (GIST). He received adjuvant imatinib for 3 years. He later experienced metastatic recurrence and resumed imatinib treatment, but then lost coverage and access to the drug, leading to a treatment gap. In 2020, approximately 6 years after original diagnosis, he presented to our clinic with imaging that showed disease progression. He opted to resume imatinib, but follow-up imaging a few months later revealed further progression. A biopsy at that time identified a new KIT exon 17 mutation, prompting a shift to treatment with regorafenib. However, treatment with regorafenib was delayed, and after 6 months scans revealed continued progression of disease.

Surgical resection of the tumor was performed, and ripretinib was initiated. Subsequent evaluation of the resected tumor revealed new mutations: an KIT exon 13 mutation and a different KIT exon 17 mutation. The patient continued on ripretinib for approximately 3 years until he lost access to the medication, after which follow-up scans confirmed progression. The patient was then enrolled in a clinical trial evaluating combination sunitinib and bezuclastinib. This novel therapeutic approach aims to address the evolving molecular landscape of GIST, offering potential hope for disease control in this challenging case. Throughout the course of treatment, the patient’s disease has continued to evolve, requiring adaptive strategies and personalized care.