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HelpTest ID 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 does not include a pathology consultation. If a pathology consultation is requested, 70012 / Pathology Consultation should be ordered and the appropriate FISH test will be ordered and performed at an additional charge.
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for all reflex probes performed. 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.
Unless otherwise indicated, JAZF1 FISH testing will be performed:
-If a JAZF1 rearrangement is not identified by FISH, reflex testing for PHF1 and YWHAE rearrangement will be performed.
-If JAZF1 FISH testing was previously performed, reflex testing for PHF1 or YWHAE may be ordered separately.
-If testing was not performed at Mayo Clinic, provide a copy of the JAZF1 FISH report.
Method Name
Fluorescence In Situ Hybridization (FISH)
Reporting Name
Endometrial Stromal Tumor, FISH, TsSpecimen Type
TissueForms: If not ordering electronically, complete, print, and send a Oncology Test Request Form (T729) with the specimen
(http://www.mayomedicallaboratories.com/it-mmfiles/oncology-request-form.pdf)
Provide a pathology report with each tissue specimen. The laboratory will not reject a specimen that arrives without this information but will hold the specimen until a pathology report is received.
Advise Express Mail or equivalent if not on courier service.
Submit only 1 of the following specimens:
Specimen Type: Tissue
Preferred: Tissue block
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.
Acceptable: Slides
Collection Instructions: Six consecutive, unstained, 5 micron-thick sections placed on positively charged slides, and 1 hematoxylin and eosin-stained slide.
Specimen Minimum Volume
Three consecutive, unstained, 5 micron-thick sections placed on positively charged slides and 1 hematoxylin and eosin-stained slide
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). These tumors are characterized by a translocation that fuses JAZF1 at 7p15 to JJAZ1 at 17q21 or a variant 6;7 translocation involving JAZF1 and PHF1. Published literature employing FISH and reverse transcriptase PCR (RT-PCR) suggests rearrangement of JAZF1 occurs in approximately 76% of ESN and approximately 58% of ESS. JAZF1 is not generally considered to be involved in the genetic mechanism of the high-grade undifferentiated endometrial sarcoma (UES), although rarely some cases of UES are positive for JAZF1, which may reflect the presence of an ESS component.
For PHF1 disruption, a study of 94 EST demonstrated the following:
-PHF1/JAZF1 fusion in 4 primary ESS
-PHF1/EPC1 fusion in 2 primary ESS and 1 extrauterine ESS
-PHF1 rearrangement without a known partner in 6 primary or metastatic ESS and 1 extrauterine ESS
JAZF1/JJAZ1, PHF1/JAZF1 and PHF1/EPC1 fusions were mutually exclusive in individual patients.(4) No rearrangement of PHF1 was found in ESN, UES, or non-EST tumors in the differential diagnosis. These results indicate that PHF1 can rearrange with both known and unknown partners in addition to JAZF1 and is potentially specific for ESS.
In high-grade ESS, a recurrent t(10;17)(q22;p13) resulting in fusion of YWHAE (also called 14-3-3epsilon at 17p13.3 with either FAM22A or FAM22B was identified. In contrast, JAZF1 rearrangements are typically observed in low-grade ESS. JAZF1 and YWHAE rearrangements are mutually exclusive and have distinct gene expression profiles. YWHAE rearrangement is potentially specific for high-grade ESS as no YWHAE disruption has been reported in other uterine or nonuterine mesenchymal tumors.
The clinical utility of identifying JAZF1 rearrangement is mainly to address the differential diagnostic dilemma that occurs when ESS are present as metastatic lesions or exhibit variant morphology. In JAZF1-negative EST cases, reflex genetic analysis to identify PHF1 or YWHAE rearrangement increases the diagnostic sensitivity for EST. In addition, confirmation of YWHAE rearrangement may have prognostic implications as YWHAE defines a distinct, clinically more aggressive and histologically higher grade subgroup of ESS compared to those with JAZF1 rearrangements.
Reference Values
An interpretive report will be provided.
Cautions
This test is not approved by the U.S. 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 FISH assays, however non-formalin fixed samples will not be rejected.
Paraffin-embedded tissues that have been decalcified are generally unsuccessful for FISH analysis. The pathologist reviewing the hematoxylin and eosin-stained slide may find it necessary to cancel testing.
Day(s) Performed
Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m. CST.
Report Available
7 daysPerforming Laboratory
Mayo Medical Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. 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)
88275 – Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)