Gastrointestinal Stromal Tumour (GIST)

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This blog is for informational purposes only and should not be taken as medical advice. Content is sourced from third parties, and we do not guarantee accuracy or accept any liability for its use. Always consult a qualified healthcare professional for medical guidance.

What is Gastrointestinal Stromal Tumour (GIST)?

GIST is a rare soft tissue sarcoma arising from interstitial cells of Cajal in the GI tract wall, mostly stomach (60%), small intestine (30%), with KIT/PDGFRA mutations (85-90%). It’s mesenchymal, graded by size, mitoses, location. In 2025, ~5,000-6,000 US cases, median age 60, slightly more in men.

Symptoms

Symptoms include abdominal pain, bleeding (anemia, black stools), nausea, vomiting, early satiety, lump, or fatigue. Small GISTs asymptomatic, found incidentally. Advanced causes obstruction, perforation.

Causes

Mutations in KIT (exon 11 most common) or PDGFRA drive uncontrolled growth. Risk factors include neurofibromatosis type 1, family history (rare germline KIT mutations). No strong environmental links. In 2025, succinate dehydrogenase-deficient GISTs are recognized in young patients.

Diagnosis

Diagnosis uses endoscopy/CT for mass detection, biopsy with immunohistochemistry (CD117/KIT+, DOG1+), and molecular testing for KIT/PDGFRA. PET assesses response. In 2025, NGS identifies rare mutations.

Treatment

Surgery is curative for localised GIST. Imatinib (TKI) for unresectable/metastatic KIT+ (80% response). Resistant cases use sunitinib, regorafenib, ripretinib. In 2025, avapritinib for PDGFRA exon 18.

Future Outlook

In 2025, 5-year survival is 90% for localised, 50% for metastatic. TKIs extend metastatic survival to 5-7 years. By 2030, novel TKIs and immunotherapy could raise to 70%.

Sources

The information for GIST is sourced from PMC’s “An update on gastrointestinal stromal tumors (GISTs) with a focus on extragastrointestinal stromal tumors (EGISTs)” for 2025 updates; NORD’s “Gastrointestinal Stromal Tumors – Symptoms, Causes, Treatment” for causes; Mayo Clinic’s “Gastrointestinal stromal tumor (GIST) – Symptoms and causes” for symptoms; Cleveland Clinic’s “Gastrointestinal Stromal Tumor (GIST)” for treatment; MD Anderson’s “Gastrointestinal stromal tumors (GISTs): What are they, and how are they treated?” for overview; POR Journal’s “Survival trends of gastrointestinal stromal tumor in real-world settings” for prognosis; PMC’s “Survival trends of gastrointestinal stromal tumor in real-world settings” for survival; Mayo Clinic’s “Gastrointestinal stromal tumor (GIST) – Diagnosis and treatment” for diagnosis; Dana-Farber’s “Gastrointestinal Stromal Tumor (GIST)” for information; OHSU’s “Gastrointestinal Stromal Tumor (GIST) | Knight Cancer Institute” for symptoms.