c‑KIT Mutations with Reflex to PDGFRA Mutations for GIST
Use
Eighty percent of patients with gastrointestinal stromal tumor (GIST) have a C‑KIT mutation in exon 9, 11, 13, or 17. The presence of a mutation usually predicts poor survival. Patients with C‑KIT mutations other than D816V are likely to respond to imatinib (Gleevec) therapy. Mutations in the PDGFRA gene are found in about 7% of gastrointestinal stromal tumors (GISTs), especially in KIT wild type GISTs. PDGFRA mutations also have been described in synovial sarcomas (SSs) and malignant peripheral nerve sheath tumors (MPNST). GISTs with PDGFRA mutations (except D842V) are likely to respond to imatinib.
Special Instructions
Not provided.
Limitations
Not provided.
Methodology
NGS
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Preferred Specimen: Formalin‑fixed paraffin embedded tissue
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 7 days |
| Refrigerated | 14 days |
| Frozen | Unacceptable |
