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Test Code MISC2MAYOESTUF 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, PATHC / 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, Ts

Specimen Type


Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

1. A pathology report is required in order for testing to be performed. Acceptable pathology reports include working drafts, preliminary pathology or surgical pathology reports.

2. 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:


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 Special Container
Tissue Ambient (preferred)

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). 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.


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


Detection of an abnormal clone likely indicates a diagnosis of an endometrial stromal tumor of various subtypes.


The absence of an abnormal clone does not rule out the presence of a neoplastic disorder.

Method Description

The test is performed using laboratory-developed dual-color break-apart strategy probes (BAP) 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 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 etcher on the back of the unstained slide to be assayed. The probe set is hybridized to the appropriate target areas and 2 technologists each analyze 50 interphase nuclei (100 total for each probe set) with the results expressed as the percent abnormal nuclei.(Unpublished Mayo method)

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. This test 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 In Process


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

Secondary ID