- Gastro-intestinal stromal tumours (GISTS) are a rare form of gastrointestinal neoplasm, however they are the most common mesenchymal tumour of the gastrointestinal tract. Approximately 700 new cases are diagnosed each year in the UK. Diagnosis is mainly by clinical features and standard histopathology including immunostaining.
- A majority of GISTs have been found to have activating mutations in one of two tyrosine kinase genes KIT and PDGFRA. The majority >65% have acquired activating mutations in KIT whereas ~3% have acquired activating mutations in PDGFRA (https://oncologypro.esmo.org/education-library/factsheets-on-biomarkers/kit-in-gastrointestinal-stromal-tumours-gist).
- Imatinib is useful in the clinical management of patients with GIST, with the majority of GISTs showing a good response to imatinib therapy. Imatinib is only approved for use in GIST where the diagnosis has been confirmed either by KIT immunostaining or positive mutation analysis.
Please refer to the National Genomic Test Directory for Cancer here.
GIST panel 21 calendar days
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