Up to 90% of all malignant GISTs harbour gain-of function mutations in the KIT / PDGFRA genes. Primary mutations have been described in exons 9, 11, 13 & 17 of KIT, and exons 12, 14 & 18 of PDGFRA. Secondary (acquired or treatment associated) mutations have also been described. Selective TKIs have a high response rate in patients with advanced GISTs, which are largely radiotherapy and chemotherapy resistant. Evidence suggests that the type and location of KIT or PDGFRA mutations in GISTs predicts the response to TKI treatment.
What to send:
Please note tissue handling, tissue fixation, time between cutting and staining and excessive drying can lead to loss of expression. Fixatives containing alcohol should not be used and use of Bouin’s fixative will preclude testing by FISH methods.
A copy of the original Pathology report where possible.