Gist C-kit Gene Mutations, Blocks

What is C-KIT GIST test?

The C-KIT test is used to detect mutations in the KIT gene, particularly in patients suspected of having gastrointestinal stromal tumors (GISTs). These mutations are common in GISTs and play a major role in the development and progression of the disease by promoting abnormal cell growth through the activation of tyrosine kinase signalling.

Why consider C-KIT GIST test?

Identifying a mutation in the KIT gene is critical for confirming the diagnosis of GIST and helps guide treatment strategies. Patients with KIT mutations often respond well to targeted tyrosine kinase inhibitors (TKIs) like imatinib. Knowing the exact mutation also helps predict the tumor’s response to therapy and informs prognosis.

Who should get tested for C-KIT GIST test?

• Newly diagnosed or suspected GIST on biopsy/resection to establish the driver mutation before initiating TKI therapy or adjuvant treatment planning.
• Patients with progression or relapse on imatinib to evaluate for secondary KIT mutations and guide switch to alternative TKIs or trial options.
• KIT‑negative or equivocal IHC cases where molecular testing clarifies diagnosis and determines if PDGFRA reflex testing is needed when KIT is wild type.

More Information

OTHER NAMES: KIT mutation analysis in GIST, c‑KIT hotspot testing (exons 9, 11, 13, 17), KIT genotyping for TKI selection in GIST.

Gastrointestinal stromal tumors (GISTs) are rare cancers that develop in the specialized cells of the digestive tract wall, known as the interstitial cells of Cajal. Most GISTs occur in the stomach or small intestine, driven by gene mutations (primarily in the KIT gene) that cause uncontrolled cell growth.