Probe(s): TFE3 (Xp11.2)
Disease(s): Renal cell carcinoma (RCC), alveolar soft part sarcoma (ASPS)
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.
- 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.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
5 days 3 for tech-only
- 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+.