Pathologic diagnosis and molecular features of gastrointestinal stromal tumors: a mini-review

Gastrointestinal stromal tumors (GISTs) arise from the interstitial cells of Cajal, predominantly affecting the stomach and small intestine, with rare occurrences in the duodenum, rectum, and extraintestinal sites. Histologically, GISTs can present as spindle cells, epithelioid cells, or mixed morphologies, with immunohistochemical staining revealing expression of KIT (CD117) and discovered on GIST 1 (DOG1). Approximately 80% of GISTs harbor activating mutations in KIT or platelet derived growth factor receptor α (PDGFRA), which influence their clinical behavior and treatment response. SDH-deficient GISTs, associated with syndromes such as Carney triad and Carney–Stratakis syndrome, represent a distinct subgroup with unique characteristics and management challenges. The standard treatment includes surgery and imatinib for metastatic cases; however, resistance to tyrosine kinase inhibitors remains a significant hurdle, especially in pediatric and wildtype GISTs. This highlights the need for advanced therapeutic strategies and emphasizes the importance of molecular profiling in guiding treatment decisions and improving outcomes for GIST patients.