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Test Code 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, Ewing sarcoma, extraskeletal myxoid chondrosarcoma, desmoplastic small round cell tumor, clear cell sarcoma, 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, Ts

Specimen Type

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



Additional Testing Requirements


Confirmation testing by next generation sequencing to resolve atypical or unbalanced fluorescence in situ hybridization results of this gene region 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.



Specimen Required


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 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 Special Container
Tissue Ambient (preferred)
  Refrigerated 

Reference Values

An interpretive report will be provided.

Interpretation

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal cutoff for the Ewing sarcoma breakpoint region 1 (EWSR1) fluorescence in situ hybridization (FISH) 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 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 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. 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.