Klin Onkol 2025; 38(3): 170-176. DOI: 10.48095/ccko2025170.
Background: Gastrointestinal stromal tumors (GISTs) are rare tumors of the digestive tract that have seen significant advances in diagnosis and treatment in recent years. A key breakthrough was the identification of c-KIT and PDGFRA gene mutations, which enabled the introduction of targeted therapies. The cornerstone of the treatment for localized disease is radical (R0) surgical resection, with adjuvant imatinib recommended for patients at high risk of recurrence. In advanced or metastatic disease, standard care involves sequential treatment with tyrosine kinase inhibitors, including imatinib, sunitinib, and regorafenib. A major advance is represented by ripretinib, which effectively inhibits a broad spectrum of KIT and PDGFRA mutations and has been shown to prolong survival in patients with advanced GIST refractory to current options of systemic therapy. The expanding range of targeted therapies, such as avapritinib for the PDGFRA D842V mutation, underscores the importance of molecular profiling in guiding optimal treatment strategies. Aim: This review aims to summarize current knowledge on the diagnosis and treatment of GIST, with a focus on the role of molecular-genetic profiling, the therapeutic value of individual tyrosine kinase inhibitors, and emerging options for advanced disease, with particular emphasis on ripretinib.