Disease Directory Gastrointestinal Stromal Tumor
Oncology

Gastrointestinal Stromal Tumor

Also known as: GIST, KIT/PDGFRA tumor, gastrointestinal stromal sarcoma

Prevalence

10–15 in 1,000,000

Onset

Adult (median age 60s); paediatric and SDH-deficient GIST in younger patients

Type

Sporadic; rare familial germline KIT or PDGFRA mutations

Gene

KIT, PDGFRA, SDH (multiple)

About Gastrointestinal Stromal Tumor

Gastrointestinal stromal tumours are the most common mesenchymal tumours of the GI tract, arising from the interstitial cells of Cajal or their precursors, and defined by gain-of-function mutations in KIT (approximately 80%) or PDGFRA (approximately 10%), with the remaining cases being wild-type and often harbouring SDH complex deficiency, NF1 mutations, or BRAF alterations. The advent of imatinib and subsequent generations of tyrosine kinase inhibitors has transformed the management of advanced GIST, but drug resistance through secondary KIT/PDGFRA mutations remains the central clinical challenge. Precise molecular subtyping of the primary driver mutation is essential for predicting drug sensitivity and determining eligibility for targeted therapy trials.

Common Clinical Features

Asymptomatic incidental finding on imaging in early or small tumours Abdominal pain or discomfort from a palpable abdominal mass Gastrointestinal bleeding presenting as haematemesis, melaena, or iron-deficiency anaemia Early satiety, nausea, or dysphagia depending on tumour location within the GI tract Tumour rupture causing acute haemoperitoneum and haemodynamic compromise Peritoneal metastases causing abdominal distension and ascites Hepatic metastases discovered on surveillance imaging in patients on TKI therapy

Clinical Trial Eligibility Tips

What to know before applying to Gastrointestinal Stromal Tumor trials.

Precise molecular characterisation — KIT exon 9, 11, 13, or 17 mutation, PDGFRA mutation including D842V status, or SDH/NF1/BRAF wild-type subtype — is required for virtually all targeted therapy trials and determines which TKI is applicable.

PDGFRA D842V mutations confer resistance to imatinib and sunitinib but sensitivity to avapritinib; confirm D842V status separately as standard KIT/PDGFRA panels do not always report this variant explicitly.

Prior TKI lines of therapy and reasons for discontinuation (progression vs. toxicity) are key eligibility variables; provide a complete treatment chronology with best response and progression dates for each agent.

Patient Resources

Patient Organization

Life Raft Group

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Natural History Registry

Life Raft Group Patient Registry

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Orphanet

European reference resource for rare diseases (ORPHA:44890)

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NORD

National Organization for Rare Disorders

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Find recruiting Gastrointestinal Stromal Tumor trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Gastrointestinal Stromal Tumor. Updated daily.

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