TFE3 Gene Rearrangement by FISH
Also known as: TFE3_FISH
Use
The TFE3 Gene Rearrangement by FISH test aids in the diagnosis of renal cell carcinoma (RCC), alveolar soft part sarcoma (ASPS), and other neoplasms where TFE3 rearrangements are present, such as perivascular epithelioid cell tumors (PEComa) and epithelioid hemangioendotheliomas (EHE). The test is designed to detect translocations involving the TFE3 gene but does not identify specific translocation partners. A positive result is indicated by abnormal signal patterns in 15 percent or more of the evaluated tumor cells.
Special Instructions
Specimens must include a surgical pathology report. If multiple specimens are sent, a comment indicating specimen selection or individual orders are required. Use ARUP supply #47808 for transport; kit is recommended but not necessary.
Limitations
The test may not detect rare cryptic rearrangements and intrachromosomal inversion events, such as RBM10-TFE3 fusion. Although the test is designed to detect the majority of TFE3 rearrangements, some rare events might escape detection. It does not specify the translocation partner and may be affected by variations in the sample handling or processing.
New York Approved
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
LOINC Codes
- 81304-8
- 80398-1
- 31208-2
- 35474-6
- 78236-7
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Tumor Tissue (FFPE)
Volume
Not provided
Minimum Volume
2 slides
Container
Tissue transport kit (ARUP supply #47808)
Collection Instructions
Formalin fix (10 percent neutral buffered formalin) and paraffin embed specimen. Protect paraffin block from excessive heat.
Storage Instructions
Room temperature. Also acceptable: Refrigerated. Ship in cooled container during summer months.
Causes for Rejection
Paraffin block with no tumor tissue remaining. Specimens fixed in any fixative other than 10 percent neutral buffered formalin. Decalcified specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Indefinitely |
| Refrigerated | Indefinitely |
| Frozen | Unacceptable |