Test Id : ESTUF
Endometrial Stromal Tumors (EST), 7p15 (JAZF1), 6p21.32 (PHF1), 17p13.3 (YWHAE) Rearrangement, FISH, Tissue
Useful For
Suggests clinical disorders or settings where the test may be helpful
Supporting the diagnosis of endometrial stromal tumors when used in conjunction with an anatomic pathology consultation
Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial 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
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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
A short description of the method used to perform the test
Fluorescence In Situ Hybridization (FISH)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Cellular leiomyoma
Endometrial stromal nodule (ESN)
Endometrial stromal sarcoma (ESS)
Undifferentiated endometrial sarcoma (UES)
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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.
Specimen Type
Describes the specimen type validated for testing
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.
ORDER QUESTIONS AND ANSWERS
| Question ID | Description | Answers |
|---|---|---|
| CG744 | Reason for Referral |
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
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.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
Slides: 1 Hematoxylin and eosin stained and 3 unstained
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Tissue | Ambient (preferred) | ||
| Refrigerated | |||
Useful For
Suggests clinical disorders or settings where the test may be helpful
Supporting the diagnosis of endometrial stromal tumors when used in conjunction with an anatomic pathology consultation
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
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
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation
Provides information to assist in interpretation of the test results
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
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
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.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. WHO Classification of Tumours. Female Genital Tumours. 5th ed. IARC; 2020:286-288. WHO Classification of Tumours. Vol 4
2. Nomura Y, Tamura D, Horie M, et al. Detection of MEAF6-PHF1 translocation in an endometrial stromal nodule. Genes Chromosomes Cancer. 2020;59(12):702-708
3. Conklin CM, Longacre TA. Endometrial stromal tumors: the new WHO classification. Adv Anat Pathol. 2014;21(6):383-393
4. Antonescu CR, Kao YC, Xu B, et al. Undifferentiated round cell sarcoma with BCOR internal tandem duplications (ITD) or YWHAE fusions: a clinicopathologic and molecular study. Mod Pathol. 2020;33(9):1669-1677
5. O'Meara E, Stack D, Lee CH, et al. Characterization of the chromosomal translocation t (10; 17)(q22; p13) in clear cell sarcoma of kidney. J Pathol. 2012;227(1):72-80
6. Chiang S, Ali R, Melnyk N, et al. Frequency of known gene rearrangements in endometrial stromal tumors. Am J Surg Pathol. 2011;35(9):1364-1372
7. Lee CH, Marino-Enriquez A, Ou W, et al. The clinicopathologic features of YWHAE-FAM22 endometrial stromal sarcomas: A histologically high-grade and clinically aggressive tumor. Am J Surg Pathol. 2012;36(5):641-653
8. Panagopoulos I, Mertens F, Griffin CA, et al. An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera. Cancer Genet Cytogenet. 2008;185(2):74-77
9. Lee CH, Ou WB, Marino-Enriquez A, et al. 14-3-3 fusion oncogenes in high-grade endometrial stromal sarcoma. Proc Natl Acad Sci U S A. 2012;109(3):929-934
10. Micci F, Panagopoulos I, Bjerkehagen B, et al. Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma. Cancer Res. 2006;66(1):107-112
11. Gebre-Medhin S, Nord KH, Moller E, et al. Recurrent rearrangement of the PHF1 gene in ossifying fibromyxoid tumors. Am J Pathol. 2012;181(3):1069-1077
Method Description
Describes how the test is performed and provides a method-specific reference
The test is performed using laboratory-developed dual-color break-apart strategy probes for JAZF1, PHF1, and YWHAE. Formalin-fixed, paraffin-embedded tissues 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. The probe set is hybridized to the appropriate target areas, and 2 technologists independently analyze 50 interphase nuclei (100 total) with the results expressed as the percent of abnormal nuclei.(Unpublished Mayo method).
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Monday through Friday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
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® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| ESTUF | Endometrial Stromal Tumor, FISH, Ts | 102086-6 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 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 |
| 52154 | Released By | 18771-6 |
| 53831 | Disclaimer | 62364-5 |