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HelpTest ID: EWSF Ewing Sarcoma, 22q12 (EWSR1) Rearrangement, FISH, Tissue
Useful For
Detection of EWSR1 rearrangements irrespective of the EWSR1 fusion partner gene
Supporting the diagnosis of many neoplasms including, but not limited to Clear cell sarcoma, Desmoplastic small round cell tumor, Ewing sarcoma, myxoid chondrosarcoma, and myxoid liposarcoma, when used in conjunction with pathologic assessment
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 probes). No analysis charges will be incurred if an insufficient number of representative cells are available for analysis.
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
EWSR1 (22q12), FISH, TsSpecimen Type
TissueOrdering 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.
Additional Testing Requirements
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 (fresh tissue is not acceptable)
Collection Instructions:
1. Submit a formalin-fixed, paraffin-embedded tumor tissue block.
2. Blocks prepared with alternative fixation methods (eg, Prefer, Bouin’s) will be attempted but are less favorable for successful results. Provide fixation method used.
Additional Information:
1. Paraffin-embedded specimens can be from any anatomic location (skin, soft tissue, lymph node, etc.).
2. Decalcified paraffin-embedded specimens will have testing attempted; however, the success rate is approximately 50%. Testing may be canceled if sufficient tumor tissue is not present.
3. Submitted fresh tissue specimens will be canceled upon receipt. If only fresh tissue is available, embed in paraffin prior to sending.
Acceptable:
Specimen Type: Tissue slides
Slides: 1 Hematoxylin and eosin-stained and 4 unstained
Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 4 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 2 unstained
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Tissue | Ambient (preferred) | |
| Refrigerated | ||
Clinical Information
The Ewing sarcoma breakpoint region 1 (EWSR1) gene encodes a protein with numerous complex activities within the cell including acting as a transcriptional regulator and mediating the activity of other proteins.(1) Oncogenic fusion of EWSR1 at 22q12.2 with FLI1 at 11q24.3 resulting from t(11;22)(q24.3;q12.2) or with ERG at 21q22.2 resulting from t(21;22)(q22.2;q12.2) was initially shown to be associated with and characteristic of Ewing sarcoma. Fusion of EWSR1 with various partner genes has since been identified in a wide variety of neoplasms.
Reference Values
An interpretive report will be provided.
Interpretation
EWSR1 will be clinically interpreted as positive, negative, or equivocal.
A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal cutoff for the EWSR1 probe set.
A positive result is consistent with the presence of EWSR1 rearrangement and likely reflects EWSR1 fusion with a partner gene. The significance of this FISH result is dependent on clinical and pathologic features.
A negative result suggests no rearrangement of the EWSR1 gene region is present.
A negative result does not exclude the presence of a neoplastic disorder.
Clinical Reference
1. Rossow KL, Janknecht R. The Ewing's sarcoma gene product functions as a transcriptional activator. Cancer Res. 2001;61(6):2690-2695
2. Romeo S, Dei Tos AP. Soft tissue tumors associated with EWSR1 translocation. Virchows Arch. 2010;456(2):219-234. doi:10.1007/s00428-009-0854-3
3. Fisher C. The diversity of soft tissue tumours with EWSR1 gene rearrangements: a review. Histopathology. 2014;64(1):134-150. doi:10.1111/his.12269
4. WHO Classification of Tumours Editorial Board. Soft Tissue and Bone Tumours. 5th ed. IARC; 2020. WHO Classification of Tumours Series. Vol. 3
Day(s) Performed
Monday through Friday
Report Available
7 to 10 daysTest 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 - NA 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)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| EWSF | EWSR1 (22q12), FISH, Ts | 93806-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 52187 | Result Summary | 50397-9 |
| 52189 | Interpretation | 69965-2 |
| 54589 | Result | 62356-1 |
| CG749 | Reason for Referral | 42349-1 |
| 52190 | Specimen | 31208-2 |
| 52191 | Source | 31208-2 |
| 52192 | Tissue ID | 80398-1 |
| 52193 | Method | 85069-3 |
| 55030 | Additional Information | 48767-8 |
| 53827 | Disclaimer | 62364-5 |
| 52194 | Released By | 18771-6 |
Forms
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.
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