Gastrointestinal Stromal Tumors (GISTs), PDGFRA Mutation Analysis
Also known as: Tyrosine Kinase Inhibitor (TKI, Imatinib) Responsiveness
Use
The platelet-derived growth factor receptor alpha (PDGFRA) gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. PDGFRA and c-KIT have approximately 35% homology. They both belong to the PDGFRA subfamily of receptor tyrosine kinases, which are involved in the regulation of cell growth, proliferation, adhesion, migration, differentiation, and apoptosis. Recently, the kinase inhibitor Avapritinib (AYVAKIT™) was approved for the treatment of adults with unresectable or metastatic gastrointestinal stromal tumor (GIST) harboring a platelet-derived growth factor receptor alpha (PDGFRA) exon 18 mutation, including PDGFRA D842V mutations.
Special Instructions
Not provided.
Limitations
Genomic DNA is purified from the specimen provided. Exons 10, 12, 14, and 18 of PDGFRA gene coding are subjected to PCR amplification and bidirectional sequencing in duplicate to identify sequence variations. This assay has a sensitivity to detect approximately 10% of cells containing the PDGFRA mutations in a background of nonmutant cells. This assay will not detect the mutation below the sensitivity of this assay. This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary.
Methodology
PCR-based
Biomarkers
No genes
Gene
LOINC Codes
- 41103-3 - Gene XXX Mut Anl Bld/T
- 48004-6 - DNA change
- 48005-3 - Amino acid change
- 77202-0 - Laboratory comment Report
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
- 8100-0 - Specimen preparation
Result Turnaround Time
10-14 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Formalin-fixed, paraffin-embedded (FFPE) block or five unstained slides from paraffin block in 10-μM sections and a matching H&E reference slide
Minimum Volume
2mm x 2mm tumor area with greater than or equal to 50% tumor
Container
Slides or blocks
Storage Instructions
Maintain blocks and slides at room temperature.
Causes for Rejection
Tumor block containing insufficient tumor tissue or tumor fixed in a heavy metal fixative; broken or stained slides
Other tests from different labs that may be relevant