Conference Abstracts - 5th Binaytara Precision Oncology Summit: Redefining Cancer Treatment with Molecular Targeted Strategies
Vol. 5, Issue Supplement 1, 2025 · S1-1
Sustained Response to Avapritinib in Uterine Sarcoma with a PDGFRA D842V Mutation
Sukjun Lee, BA,Nam Bui, MD,Walter Devine, MD, PhD,Varun Monga, MBBS
Submission received: 2025-07-20 / Accepted: 2025-08-27 / Published: 2025-09-26
Background
Uterine sarcoma is a rare type of cancer that forms in the muscles or tissues of the uterus, accounting for less than 5% of gynecologic malignancies. It has a poor prognosis and unmet need for treatment options in locally advanced and metastatic settings. This case report presents a patient with metastatic uterine sarcoma harboring a PDGFRA D842V mutation, which has not been previously reported in this cancer type in the literature. She has been treated with Avapritinib, a PDGFRA inhibitor, and has shown a durable clinical response.
Case Discussion
A 74-year-old female with uterine sarcoma underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy in December 2022. She was undergoing surveillance scans until April 2024, when new peritoneal nodules, compatible with biopsy-proven metastatic disease, were diagnosed. The next-generation sequencing (NGS) test on the biopsy tissue identified a PDGFRA p.D842V. Given the molecular profile and patient's concern over side effects of chemotherapy, off-label Avapritinib (300mg QD) was initiated as the first-line therapy in June 2024.
After 5 months of Avapritinib, the patient's disease assessment scans revealed almost complete response, which has been sustained to date. The patient developed expected side effects of fatigue, nausea, hair color changes, and mild cognitive defects. Due to Grade 3 fatigue, the Avapritinib dose was reduced to 200mg after approximately 1 month of treatment and further to 100mg after 12 months. As of July 2025, the patient continues on Avapritinib with manageable toxicities.
Conclusion
The patient's treatment response suggests the role of Avapritinib beyond the FDA-approved indications. While not commonly reported outside of gastrointestinal stromal tumors, the PDGFRA D842V mutation has been observed in other cancer types, including eosinophilic leukemia, glioma, and DICER1-associated anaplastic sarcoma of the kidney. Performing an NGS test in patients with metastatic uterine sarcoma may help identify personalized genomically-targeted therapies for whom the treatment options are limited.