KIT Mutations Melanoma
Also known as: KITMELAN
Use
This test is used to detect activating mutations in the KIT and PDGFRA genes, which can predict response to tyrosine kinase inhibitor (TKI) therapy. Mutations in the KIT gene may indicate responsiveness to certain targeted therapies. For specific treatment recommendations, refer to the NCCN Clinical Practice Guidelines in Oncology for Melanoma. The test evaluates variants in tumor tissue only and cannot distinguish between somatic and germline variants.
Special Instructions
Include surgical pathology report. Specimens must be accompanied by an order comment indicating that the ARUP pathologist should choose the specimen most appropriate for testing (e.g., "Choose best block"), or individual orders for each sample submitted. A Pathologist Block Selection Fee will be added to orders that utilize this option. If multiple specimens are sent without a request for pathologist block/slide selection or individual orders, they will be held until clarification is provided.
Limitations
This test will not detect mutations in other locations within the KIT or PDGFRA genes, in other genes, or below the limit of detection. Some large insertion/deletion mutations, especially those greater than 60bp, may not be detected. Tissue samples yielding at least 10ng are acceptable but may yield suboptimal results if yield is less than 50ng. Limit of detection is 5 percent mutant allele frequency for single nucleotide variants (SNV) and small to medium sized multi-nucleotide variants (MNV), specifically insertions/deletions less than 60bp. This test is not intended to detect minimal residual disease.
Methodology
NGS
Biomarkers
LOINC Codes
- 55201-8
- 57723-9
Result Turnaround Time
10-12 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Formalin fix (10 percent neutral buffered formalin) and paraffin embed tissue. Transport block and/or slides in a tissue transport kit (ARUP supply #47808). Transport 8 unstained 5-micron slides. (Min: 5 slides)
Storage Instructions
Room temperature. Also acceptable: Refrigerated. Ship in cooled container during summer months.
Causes for Rejection
Less than 10 percent tumor. Specimens fixed in any fixative other than 10 percent neutral buffered formalin. Decalcified specimens. FNA smears with less than 50 tumor cells.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Indefinitely |
| Refrigerated | Indefinitely |
| Frozen | Unacceptable |