Alveolar Soft Part Sarcoma (ASPS)/Renal Cell Carcinoma (RCC), Xp11.23 (TFE3), FISH, Tissue
Use
This test aids in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant, especially when used in conjunction with an anatomic pathology consultation. It detects rearrangements involving TFE3, which are characteristic of these tumors and can help resolve diagnostic uncertainty. This is crucial as ASPS is typically slow-growing and refractory to chemotherapy, and RCC presents at an advanced stage but with an indolent clinical course.
Special Instructions
Not provided.
Limitations
This test is not FDA-approved and is best used as an adjunct to existing clinical and pathologic information. Formalin fixed, paraffin-embedded tissues that have been decalcified are generally unsuccessful for FISH analysis. Results can be contingent on specimen quality, and improper fixation methods may render the sample unsuitable for testing. Non-formalin fixed samples will not be rejected outright but could pose challenges in analysis.
New York Approved
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
No genes
GeneTFE3-ASPSCR1 fusion
Fusion
LOINC Codes
- 95779-5 - TFE3 rearrange Tiss FISH
- 50397-9 - Mol dx interp Bld/T Ql
- 69965-2 - Clinical cytogeneticist review
- 35474-6 - Gene XXX Mut Anl Bld/T
- 42349-1
- 31208-2 - Specimen source
- 80398-1 - Unique ID Current sample
- 85069-3 - Lab test method
- 18771-6 - Provider signing name
- 48767-8 - Annotation comment Imp
- 62364-5 - Test performance info Spec
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Container
Formalin-fixed, paraffin-embedded (FFPE) tumor tissue block or unstained slides
Collection Instructions
Submit a formalin-fixed, paraffin-embedded (FFPE) tumor tissue block. Blocks prepared with alternative fixation methods may be acceptable; provide fixation method used. Accept slides: four consecutive, unstained, 5 micron-thick sections placed on positively charged slides, and 1 hematoxylin and eosin-stained slide.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |