Collaborative Stage

Note 1: Some GIST tumors have oncogenic mutations of the PDGFRA (platelet-derived growth factor receptor alpha) gene, located on chromosome 4q. This test is a special molecular diagnostic test performed on tumor tissue to identify PDGFRA mutations. Some GIST tumors that are negative for KIT mutations are positive for PDGFRA mutation. Certain patterns of mutations correlate with the anatomic site and morphology of GIST tumors and can predict response to treatment with agents such as imatinib (Gleevec). Some mutations are associated with acquired resistence to imatinib treatment.
Note 2: Another name for PDGFRA is CD140A.
Note 3: See Site-Specific Factors 12 and 13 for coding information about KIT gene expression and mutations.

Code	Description
010	PDGFRA gene test performed, positive for mutations
020	PDGFRA gene test performed, negative for mutations
988	Not applicable: Information not collected for this case
997	PDGFRA gene test ordered, results not in chart
998	PDGFRA gene test not done (test was not ordered and not performed)
999	Unknown Not documented in patient record

CS Site-Specific Factor 14
PDGFRA Gene Mutation