A case report of advanced small intestinal stromal tumor with KIT gene mutation and BRCA2 deletion after multi-line treatments
This study reports a 40-year-old male with small intestinal stromal tumor (SIST).
This study reports a 40-year-old male with small intestinal stromal tumor (SIST). After initial surgery and adjuvant imatinib, the tumor recurred. The patient then received multiple rounds of treatment with targeted drugs and surgical interventions. Through comprehensive analysis of gene mutation profiles (KIT and HRR gene mutations, including BRCA2), a combination therapy of fluzoparib, pamiparib, and ripretinib was administered, stabilizing the patient’s condition with significant efficacy. This case highlights the importance of genetic testing and personalized targeted treatment strategies for gastrointestinal stromal tumor (GIST) patients.
This case illustrates the application of comprehensive genomic profiling to guide precision therapy in a patient with advanced GIST who had failed multiple lines of tyrosine‑kinase inhibitor treatment, leading to the use of a PARP inhibitor–KIT inhibitor combination and demonstrating a potential therapeutic strategy in the setting of acquired BRCA2 loss.
Bizonyítékszint: Sejtvonalas. Laboratóriumi sejtekben vizsgálták.
Kapcsolódó jelek
- Review of Genomic Testing and SDH Deficiency in Gastrointestinal Stromal Tumors: Getting to the GIST
- Molecular Tailored Therapeutic Options for Advanced Gastrointestinal Stromal Tumors (GISTs): Current Practice and Future Perspectives
- Phase II study of neoadjuvant imatinib in large gastrointestinal stromal tumours of the stomach
- UK clinical practice guidelines for the management of gastrointestinal stromal tumours (GIST)
- Phase II Trial of Ponatinib in Patients with Metastatic Gastrointestinal Stromal Tumor following Failure or Intolerance of Prior Therapy with Imatinib (POETIG Trial)