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Test Code ESTUF Endometrial Stromal Tumors (EST), 7p15 (JAZF1), 6p21.32 (PHF1), 17p13.3 (YWHAE) Rearrangement, FISH, Tissue

Useful 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 one 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 probe set will be performed. In the absence of a PHF1 rearrangement, reflex testing using the YWHAE probe set will be performed.

 

If FISH testing for a JAZF1 rearrangement was previously performed, reflex testing using the YWHAE and/or PHF1 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 interpretation may be compromised or delayed.

 

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)

Reporting Name

Endometrial Stromal Tumor, FISH, Ts

Specimen Type

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.


Specimen Minimum Volume

Slides: 1 Hematoxylin and eosin stained and 3 unstained

Specimen Stability Information

Specimen Type Temperature Time Special Container
Tissue Ambient (preferred)
  Refrigerated 

Reject Due To

All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.

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.

Interpretation

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal cutoff for any given probe.

 

A positive result supports a diagnosis of an endometrial stromal tumor of various subtypes.

 

A negative result does not exclude the presence of a neoplastic disorder.

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 days

Performing 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)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ESTUF Endometrial Stromal Tumor, FISH, Ts 102086-6

 

Result ID Test Result Name Result LOINC Value
52147 Result Summary 50397-9
52149 Interpretation 69965-2
54584 Result 62356-1
CG744 Reason for Referral 42349-1
52150 Specimen 31208-2
52151 Source 31208-2
52152 Tissue ID 80398-1
52153 Method 85069-3
55026 Additional Information 48767-8
53831 Disclaimer 62364-5
52154 Released By 18771-6

Forms

If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.