Test Catalog

Test Id : DDITF

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Myxoid/Round Cell Liposarcoma, 12q13 (DDIT3 or CHOP) Rearrangement, FISH, Tissue

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Overview

Test Catalog

Useful For
Suggests clinical disorders or settings where the test may be helpful

Aiding in the diagnosis of myxoid/round cell liposarcoma by detecting a neoplastic clone associated with gene rearrangement involving the DDIT3 (CHOP) gene region at 12q13

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial 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
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 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.

Method Name
A short description of the method used to perform the test

Fluorescence In Situ Hybridization (FISH)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

DDIT3, Myxoid Liposarcoma, FISH, Ts

Aliases
Lists additional common names for a test, as an aid in searching

GADD153

CHOP

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 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.

Specimen Type
Describes the specimen type validated for testing

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.

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.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
CG745 Reason for Referral

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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.?Slides cut from blocks prepared with alternative fixation methods may be acceptable; provide fixation method used.

Forms

If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Slides: 1 Hematoxylin and eosin stained and 2 unstained

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Tissue Ambient (preferred)
Refrigerated

Useful For
Suggests clinical disorders or settings where the test may be helpful

Aiding in the diagnosis of myxoid/round cell liposarcoma by detecting a neoplastic clone associated with gene rearrangement involving the DDIT3 (CHOP) gene region at 12q13

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for the probe application, analysis, and professional interpretation of results for 1 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.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Myxoid/round cell liposarcoma is the second most common subtype of liposarcoma, accounting for more than one-third of all liposarcomas and representing about 10% of all adult soft-tissue sarcomas. Myxoid/round cell liposarcoma is described as a malignant tumor composed of uniform round to oval shaped primitive nonlipogenic mesenchymal cells and a variable number of small signet-ring lipoblasts in a prominent myxoid stroma with a characteristic branching vascular pattern.

 

A unique chromosome translocation, t(12;16)(q13;p11), resulting in a fusion of the DDIT3 gene (also known as CHOP or GADD153) on chromosome 12 and the FUS gene (also referred to as TLS) on chromosome 16, is the key genetic aberration in myxoid/round cell liposarcoma. More than 90% of myxoid/round cell liposarcoma are cytogenetically characterized by this translocation. In rare cases, a variant t(12;22)(q13;q12) has been described in which DDIT3 (CHOP) fuses with EWS, a gene highly related to FUS.

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 cells with an abnormality exceeds the normal cutoff for the DDIT3 (CHOP) probe set.

 

A positive result is consistent with a subset of myxoid/round cell liposarcoma.

 

A negative result suggests no rearrangement of the DDIT3 (CHOP) gene region is present but does not exclude the diagnosis of myxoid/round cell liposarcoma.

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 US Food and Drug Administration, and it 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 fluorescence in situ hybridization (FISH) assays. Non-formalin fixed specimens will not be rejected.

 

Paraffin-embedded tissues that have been decalcified may not be successful for FISH analysis. The success rate of FISH studies on decalcified tissue is approximately 50%, but FISH will be attempted if sufficient tumor is present for analysis.

 

If no FISH signals are observed post-hybridization, the case will be released indicating a lack of FISH results.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. WHO Classification of Tumours Editorial Board. Soft Tissue and Bone. 5th ed. IARC; 2020:42-44. World Health Organization Classification of Tumours. Vol 3

2. Meis-Kindblom JM, Sjogren H, Kindblom LG, et al. Cytogenetic and molecular genetic analyses of liposarcoma and its soft tissue simulators: recognition of new variants and differential diagnosis. Virchows Arch. 2001;439(2):141-51

3. Rabbitts TH, Forster A, Larson R, et al. Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma. Nat Genet. 1993;4(2):175-180

4. Sandberg AA. Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: liposarcoma. Cancer Genet Cytogenet. 2004;155(1):1-24

5. Downs-Kelly E, Goldblum JR, Patel RM, et al. The utility of fluorescence in situ hybridization (FISH) in the diagnosis of myxoid soft tissue neoplasms. Am J Surg Pathol. 2008;32:8-13

Method Description
Describes how the test is performed and provides a method-specific reference

The test is performed using a commercially available DDIT3 (CHOP) dual-color, break-apart strategy probe. Paraffin-embedded tissue samples are cut at 5 microns and mounted on positively charged glass slides. The selection of tissue and the identification of 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 engraving tool 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) with the results expressed as the percent of abnormal nuclei.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

7 to 10 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Slides and H and E used for analysis are retained by the laboratory in accordance with regulatory requirements. Client provided paraffin blocks and extra unstained slides will be returned after testing is complete.

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their account representative. For assistance, contact Customer Service.

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 instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

88271x2, 88291 DNA probe, each (first probe set), Interpretation and report

88271x2-DNA probe, each; each additional probe set (if appropriate)

88271-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® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
DDITF DDIT3, Myxoid Liposarcoma, FISH, Ts 101379-6
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
52155 Result Summary 50397-9
52157 Interpretation 69965-2
54585 Result 62356-1
CG745 Reason for Referral 42349-1
52158 Specimen 31208-2
52159 Source 31208-2
52160 Tissue ID 80398-1
52161 Method 85069-3
55027 Additional Information 48767-8
52162 Released By 18771-6
53830 Disclaimer 62364-5

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | PHP Pdf | CMS Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports