Gastrointestinal Stromal Tumor (GIST)
Rare CancerCategory: 消化器ICD-10: C49
Overview
GIST is a mesenchymal tumor derived from interstitial cells of Cajal, driven by activating mutations in KIT or PDGFRA genes. The stomach is the most common site (about 60%), followed by the small intestine. Annual incidence is approximately 1-2 per 100,000 population.
Symptoms
Small tumors are often asymptomatic. Larger tumors may cause abdominal fullness, gastrointestinal bleeding (hematemesis, melena), abdominal pain, or a palpable mass.
Diagnosis
CT imaging reveals a mass arising from the gastrointestinal wall. Endoscopic ultrasound-guided fine-needle aspiration provides tissue, and immunohistochemistry for KIT (CD117) positivity confirms the diagnosis.
Treatments
Complete surgical resection is the standard treatment for localized GIST. High-risk cases receive 3 years of adjuvant imatinib therapy. Unresectable or metastatic GIST is treated with imatinib first-line, followed by sunitinib and regorafenib upon resistance.
Latest Research & Approaches
Avapritinib is approved for PDGFRA D842V-mutant GIST, addressing a previously untreatable subset. Ripretinib and other next-generation KIT inhibitors are expanding treatment options.
Sources & References
NCI - Gastrointestinal Stromal Tumors Treatment
American Cancer Society - GIST
NCCN Guidelines: Gastrointestinal Stromal Tumors
American Cancer Society - GIST
NCCN Guidelines: Gastrointestinal Stromal Tumors