Alternative Name
Transcription factor E3
Methodology
FISH
Test Description
Probe(s): TFE3 (Xp11.2)
Disease(s): Renal cell carcinoma (RCC), alveolar soft part sarcoma (ASPS)
Clinical Significance
Chromosome Xp11.2 translocations causing TFE3 gene rearrangement and fusions define the "MiT family translocation RCC" category in the 2016 WHO renal call carcinoma classification. Alveolar soft part sarcoma (ASPS) is a rare soft tissue tumor caused by balanced or unbalanced translocation between TFE3 and the ASPL gene on chromosome 17. FISH may be used to diagnose RCC subtype and ASPS, and FISH has been reported to be more reliable in detecting translocations than TFE3 IHC.
Specimen Requirements
- Bone marrow aspirate: N/A
- Peripheral blood: N/A
- Fresh, unfixed tissue: N/A.
- Fluids: N/A
- Paraffin block: Send paraffin block. Also send circled H&E slide for tech-only (required).
- Cut slides: H&E slide (required) plus 4 unstained slides cut at 4-5 microns. Circle H&E slide for tech-only.
Storage & Transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
CPT Code(s)*
88374x1 automated or 88377x1 manual
Turnaround Time
5 days 3 for tech-only
Level of Service
Global
Technical
New York Approved
Yes
References
- Argani P. Semin Diagn Pathol. 2015:32(2):103-13.
- Pei J et al. Mod Pathol. 2019;32:710-716.
- Pradhan D et al. Diagn Pathol. 2015;10:179+.