Test ID: FJAZ
Endometrial Stromal Tumors (EST), 7p15 (JAZF1) Rearrangement, FISH, Tissue
NY State Approved 
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Aids in the diagnosis of endometrial stromal tumors when used in conjunction with an anatomic pathology consultation
Method Name A short description of the method used to perform the test
Fluorescence In Situ Hybridization (FISH)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Endometrial stromal nodule
Undifferentiated endometrial sarcoma
ESN
ESS
UES
JJAZ1
PHF1
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
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.
Container/Tube:
Preferred: Formalin-fixed, paraffin-embedded tissue block
Acceptable: 5 unstained, 5-micron thick sections
Collection Instructions: Include 1 hematoxylin and eosin-stained slide.
Forms: If not ordering electronically, submit a Cytogenetics Hematologic Disorders Request Form (Supply T607) with the specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | NA |
| Lipemia | NA |
| Icterus | NA |
| Other | NA |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Tissue | Ambient (preferred) | |
| Refrigerated | ||
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). These tumors are characterized by a translocation that fuses JAZF1 at 7p15 to JJAZ1 (official symbol SUZ12) at 17q21 or a variant 6;7 translocation also involving JAZF1.(1) Published literature employing FISH and RT-PCR suggests rearrangement of JAZF1 occurs in approximately 76% of ESN and approximately 58% of ESS.(1-3) 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.(4) The clinical utility of identifying this rearrangement is mainly to address the differential diagnostic dilemma that occurs when ESS are present as metastatic lesions or exhibit variant morphology.
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 nuclei with an abnormality exceeds the established normal cutoff for the JAZF1 probe set. A positive result of JAZF1 rearrangement is consistent with a diagnosis of endometrial stromal tumors (EST). A negative result suggests that JAZF1 is not rearranged, but does not exclude the diagnosis of EST.
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 FDA and it is best used as an adjunct to existing clinical and pathologic information.
Supportive Data
FISH analysis was performed on 101 paraffin-embedded tissue specimens including 26 normal controls, 37 endometrial stromal tumors (EST) (8 endometrial stromal nodule: ESN; 20 primary or metastatic ESS; and 9 primary or metastatic undifferentiated endometrial sarcoma: UES), and 38 histologic mimics of EST including cellular leiomyoma, in a blinded manner using standard sample processing techniques and FISH methodology.
No rearrangements of JAZF1 were identified in the 26 normal controls or 37 of the histologic mimics. A single histologic mimic was positive with a complex pattern and is being further explored.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Koontz J, Soreng AL, Nucci M, et al: Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. Proc Natl Acad Sci USA 2001;98(11):6348-6353
2. Oliva E, de Leval L, Soslow RA, et al: High Frequency of JAZF1-JJAZ1 gene fusion in endometrial stromal tumors with smooth muscle differentiation by interphase FISH detection. Am J Surg Pathol 2007;31(8):1277-1284
3. Nucci R, Harburger D, Koontz J, et al: Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms. Am J Surg Pathol 2007;31(1):65-70
4. Huang H-Y, Ladanyi M, Soslow RA: Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology-evidence for genetic heterogeneity. Am J Surg Pathol 2004;28(2):224-232
Method Description Describes how the test is performed and provides a method-specific reference
The test uses a laboratory-developed JAZF1 dual-color break-apart (BAP) FISH probe strategy. Formalin-fixed, paraffin-embedded tissues are cut at 5 microns and mounted on positively-charged glass slides. Three unstained slides and 1 slide stained with hematoxylin and eosin (H and E) are obtained. The selection of tissue and the identification of target areas on the H and E stained slide are performed by a pathologist. Using the H and E 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 and 2 technologists analyze 50 interphase nuclei each (100 total) with the results expressed as percent abnormal nuclei. (Unpublished Mayo method)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m. CST.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
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 The location of the laboratory that performs the test
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's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
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 Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
Endometrial Stromal Tumors (EST), 7p15 (JAZF1) Rearrangement, FISH, Tissue
88271 x 2-Molecular cytogenetics (eg, FISH), each probe
88275-Interphase in situ hybridization, 100-300 cells
88291-Interpretation and report
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 34276 | Specimen | N/A |
| 34277 | Specimen ID | N/A |
| 34278 | Source | N/A |
| 34279 | Order Date | N/A |
| CG598 | Reason For Referral | 42349-1 |
| 34281 | Method | N/A |
| 34282 | Result | In Process |
| 34283 | Interpretations | 69965-2 |
| 34284 | Amendment | N/A |
| 34285 | Consultant | N/A |
| 34286 | Released Date | N/A |
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