Home
HelpTest ID ESTUF Endometrial Stromal Tumors (EST), 7p15 (JAZF1), 6p21.32 (PHF1), 17p13.3 (YWHAE) Rearrangement, FISH, Tissue
Ordering Guidance
This test does not include a pathology consultation. If a pathology consultation is requested, order PATHC / Pathology Consultation, and appropriate testing will be added at the discretion of the pathologist and performed at an additional charge.
Multiple oncology (cancer) gene panels are also available. For more information see Hematology, Oncology, and Hereditary Test Selection Guide
This test is not intended for male patients.
Additional Testing Requirements
Confirmation testing by next-generation sequencing to resolve atypical or unbalanced fluorescence in situ hybridization results of these gene regions is available, order SARCP / Sarcoma Targeted Gene Fusion/Rearrangement Panel, Next-Generation Sequencing, Tumor.
Shipping 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: Submit a formalin-fixed, paraffin-embedded tumor tissue block. Blocks prepared with alternative fixation methods may be acceptable; provide fixation method used.
Acceptable
Specimen Type: Tissue slides
Slides: 1 Hematoxylin and eosin stained and 6 unstained
Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 6 consecutive unstained, positively-charged, unbaked slides with 5 micron-thick sections of the tumor tissue.
Forms
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.
Secondary ID
35851Useful For
Supporting the diagnosis of endometrial stromal tumors when used in conjunction with an anatomic pathology consultation
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| _PBCT | Probe, +2 | 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 |
| _IL25 | Interphases, <25 | No, (Bill Only) | No |
| _I099 | Interphases, 25-99 | No, (Bill Only) | No |
| _I300 | Interphases, >=100 | No, (Bill Only) | No |
Testing Algorithm
This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 probe set (2 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed. No analysis charges will be incurred if an insufficient number of representative cells are available for analysis.
Unless otherwise indicated, the JAZF1 probe set will be performed initially. In the absence of a JAZF1 rearrangement, reflex testing using the PHF1 and YWHAE probe sets will be performed.
If FISH testing for a JAZF1 rearrangement was previously performed, reflex testing using the PHF1 and YWHAE probe sets may be ordered separately. A copy of the JAZF1 FISH report is required for testing to be performed. If not provided, appropriate testing and/or interpretation may be compromised or delayed.
Method Name
Fluorescence In Situ Hybridization (FISH)
Reporting Name
Endometrial Stromal Tumor, FISH, TsSpecimen Type
TissueSpecimen Minimum Volume
Slides: 1 Hematoxylin and eosin stained and 3 unstained
Specimen Stability Information
| Specimen Type | Temperature | Time | |
|---|---|---|---|
| Tissue | Ambient (preferred) | ||
| Refrigerated | |||
Clinical Information
Endometrial stromal tumors (EST) arise from the uterus and include the benign endometrial stromal nodule (ESN) and infiltrative endometrial stromal sarcoma (ESS). Rearrangement of JAZF1 occurs in approximately 75% of ESN and approximately 60% of ESS.
PHF1 is specific to ESS and can rearrange with both known and unknown partners in addition to JAZF1.
YWHAE rearrangements occur in high-grade ESS; JAZF1 and YWHAE rearrangements are mutually exclusive.
Reference Values
An interpretive report will be provided.
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.
Fixatives other than formalin (eg, Prefer, Bouin's) may not be successful for fluorescence in situ hybridization (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.
If no FISH signals are observed post-hybridization, the case will be released indicating a lack of FISH results.
Day(s) Performed
Monday through Friday
Report Available
7 to 10 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
88271x2
88291-DNA probe, each (first probe set), Interpretation and report
88271x2-DNA probe, each; each additional probe set (if appropriate)
88271x1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)
88271x2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)
88271x3-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)