Case Presentation: 54-Year-Od Patient With PDGFRA-Mutant Gastrointestinal Stromal Tumor
Patient Case:
Jaime is a 54-year-old female with no significant past medical history who initially presented to her primary care physician with fatigue and was found to have anemia. During exam, she endorsed progressive early satiety and recent unintentional weight loss. As part of her work-up, she was sent for upper endoscopy which revealed a large, ulcerated mass in the gastric fundus near the gastroesophageal junction. The mass was biopsied during the procedure with final pathology reporting gastrointestinal stromal tumor with mitotic figures up to 18/50 HPF. CT imaging of the chest, abdomen, and pelvis confirmed a 9 x 7 x 4 cm gastric mass with no evidence of metastatic disease.
She was referred to surgical oncology for treatment. Due to both the large size and high-mitotic rate, patient was identified as being at high-risk of recurrence even with optimal resection. Due to the size and proximity to the gastroesophageal junction which would potentially require an esophagectomy, upfront surgical resection was not recommended and patient was referred to medical oncology to discuss systemic treatment. She was started on imatinib 400 mg PO daily with the goal of decreasing tumor size and, in turn, increasing ease of surgical resection. Simultaneously, NGS testing was requested on tissue for molecular subtyping. Patient tolerated imatinib well with only mild pretibial and periorbital edema. Several weeks later, NGS testing results reported PDGFRa D842V mutation (exon 18), negative for KIT mutation.
