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HelpTest Code TFEBF Renal Cell Carcinoma, 6p21.1 (TFEB) Rearrangement, FISH, Tissue
Reporting Name
TFEB, 6p21.1, FISHUseful For
Identifying TFEB gene rearrangements
Supporting the diagnosis of renal cell carcinoma when used in conjunction with an anatomic pathology consultation
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| _I099 | Interphases, 25-99 | No, (Bill Only) | No |
| _I300 | Interphases, >=100 | No, (Bill Only) | No |
| _IL25 | Interphases, <25 | No, (Bill Only) | No |
| _PADD | Probe, +1 | No, (Bill Only) | No |
| _PB02 | Probe, +2 | No, (Bill Only) | No |
| _PB03 | Probe, +3 | No, (Bill Only) | No |
| _PBCT | Probe, +2 | No, (Bill Only) | No |
Testing Algorithm
This test does not include a pathology consult. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered, and the appropriate fluorescence in situ hybridization (FISH) test will be ordered and performed at an additional charge.
This test includes a charge for the probe application, analysis, and professional interpretation of results for one probe set (2 individual FISH probes). Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
Method Name
Fluorescence In Situ Hybridization (FISH)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
TissueShipping Instructions
Advise Express Mail or equivalent if not on courier service.
Necessary Information
1. A pathology report is required for testing to be performed. If not provided, appropriate testing and/or interpretation may be compromised or delayed. Acceptable pathology reports include working drafts, preliminary pathology, or surgical pathology reports.
2. The following information must be included in the report provided:
-Patient name
-Block number - must be on all blocks, slides, and paperwork
-Date of collection
-Tissue source
3. A reason for testing must be provided. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
Specimen Required
Submit only 1 of the following specimens:
Preferred:
Specimen Type: Tissue block
Collection Instructions:
1. Submit a formalin-fixed, paraffin-embedded (FFPE) tumor tissue block. Blocks prepared with alternative fixation methods will be attempted but are less favorable for successful results by FISH testing.
2. Provide fixation method used.
Additional Information:
1. Paraffin-embedded specimens can be from any anatomic location (skin, soft tissue, lymph node, etc).
2. Bone specimens that have been decalcified will be attempted for testing, but the success rate is approximately 50%.
Acceptable:
Specimen Type: Tissue slides
Slides: 1 Hematoxylin and eosin-stained and 4 unstained
Collection Instructions: Submit 4 consecutive unstained, positively charged, unbaked slides with 5 micron-thick sections of the tumor tissue and 1 slide stained with hematoxylin and eosin.
Specimen Minimum Volume
Slides: 1 Hematoxylin and eosin-stained and 2 unstained
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Tissue | Ambient (preferred) | |
| Refrigerated | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday through Friday
CPT Code Information
88271 x 2, 88291-DNA probe, each (first probe set), Interpretation and report
88271 x 2-DNA probe, each; each additional probe set (if appropriate)
88271 x 1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)
88271 x 2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)
88271 x 3-DNA probe, each; coverage for sets containing 5 probes (if appropriate)
88274 w/modifier 52-Interphase in situ hybridization, <25 cells, each probe set (if appropriate)
88274-Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)
88275-Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| TFEBF | TFEB, 6p21.1, FISH | 95780-3 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 92350 | Result Summary | 50397-9 |
| 92351 | Interpretation | 69965-2 |
| 92352 | Result | 62356-1 |
| GC002 | Reason for Referral | 42349-1 |
| 92353 | Specimen | 31208-2 |
| 92354 | Source | 31208-2 |
| 92355 | Tissue ID | 80398-1 |
| 92356 | Method | 85069-3 |
| 92357 | Additional Information | 48767-8 |
| 92358 | Disclaimer | 62364-5 |
| 92359 | Released By | 18771-6 |
Forms
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.
Secondary ID
64973Clinical Information
The gene TFEB is often altered in renal cell carcinoma (RCC). Fluorescence in situ hybridization analysis allows for the detection of rearrangement of the TFEB gene region and can aid in the diagnosis of RCC.
Interpretation
TFEB will be clinically interpreted as positive, negative, or equivocal.
A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal cutoff for the TFEB probe set.
A positive result is consistent with rearrangement of the TFEB gene and likely reflects TFEB fusion with a partner gene. A positive result of TFEB suggests promotor substitution caused by structural alterations of the TFEB gene region at 6p21. The significance of this finding is dependent on the clinical and pathologic features.
A negative result suggests a TFEB gene rearrangement is not present. A negative result does not exclude the diagnosis of renal cell carcinoma.
Cautions
This test is not approved by the US Food and Drug Administration and is best used as an adjunct to existing clinical and pathologic information.
This fluorescence in situ hybridization (FISH) assay does not rule out other chromosome abnormalities.
Fixatives other than formalin (eg, Prefer, Bouin's) may not be successful for FISH assays. Non-formalin fixed specimens will not be rejected.
Paraffin-embedded tissues that have been decalcified may not be successful for FISH analysis. The success rate of FISH studies on decalcified tissue is approximately 50%, but FISH will be attempted if sufficient tumor is present for analysis.
FISH studies will be attempted if sufficient tumor is present for analysis. The pathologist reviewing the hematoxylin and eosin-stained slide may find it necessary to cancel testing if insufficient tissue/tumor is available for testing.
If no FISH signals or a lack of sufficient tumor tissue are observed post-hybridization, the case will be released indicating a lack of FISH results.
Clinical Reference
1. Argani P, Yonescu R, Morsberger L, et al. Molecular confirmation of t(6;11)(p21;q12) renal cell carcinoma in archival paraffin-embedded material using a break-apart TFEB FISH assay expands its clinicopathologic spectrum. Am J Surg Pathol. 2012;36(10):1516-1526
2. Argani P, Cheville J, Ladanyi M. MiT family translocation renal cell carcinomas. In: Moch H, Humphrey PA, Ulbright TM, Reuter VE. WHO Classifications of Tumours of Urinary System and Male Genital Organs. 4th ed. IARC Press, 2016, 33-34
Method Description
This test uses a laboratory developed TFEB dual-color, break-apart strategy fluorescence in situ hybridization probe set. Paraffin-embedded tissue samples are cut at 5 microns and mounted on positively charged glass slides. The selection of tissue and the identification of target areas on the hematoxylin and eosin (H and E)-stained slide are performed by a pathologist. Using the H and E-stained slide as a reference, target areas are etched with a diamond-tipped engraving tool on the back of the unstained slide to be assayed. Each probe set is hybridized to the appropriate target areas, as indicated on the H and E, and 100 interphase nuclei are scored within the targeted areas. The results are expressed as the percent of abnormal nuclei.(Unpublished Mayo method)