Myxoid/Round Cell Liposarcoma, 12q13 (DDIT3 or CHOP) Rearrangement, FISH, Tissue
Use
This test aids 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. It identifies the unique translocation t(12;16)(q13;p11) which is the key genetic aberration in more than 90% of myxoid/round cell liposarcoma cases. This chromosomal abnormality helps differentiate myxoid liposarcoma from other types of soft-tissue sarcomas.
Special Instructions
A pathology report must be provided with the specimen to avoid potential delays or compromised testing accuracy. The pathology report can be a working draft, preliminary, or surgical pathology report. Ensure that the block number, patient name, date of collection, source of tissue, and reason for testing are included in the provided documentation. This test includes a charge for the probe application and interpretation.
Limitations
The test is designed as an adjunct assay and is not approved by the US FDA. It may not perform successfully on non-formalin-fixed specimens or specimens that have been decalcified, with an approximate success rate of 50%. Additionally, the assay's efficacy relies on the availability of sufficient tumor tissue, and non-availability will cause the test to be unperformable, though it will be reported as a lack of FISH results.
New York Approved
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
LOINC Codes
- 101379-6
- 50397-9
- 69965-2
- 62356-1
- 42349-1
- 31208-2
- 80398-1
- 85069-3
- 48767-8
- 18771-6
- 62364-5
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Container
Formalin-fixed, paraffin-embedded tumor tissue block or 5-micron-thick sections on positively charged, unbaked slides
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tumor tissue block. Alternatives using different fixation methods may be acceptable; report the fixation method used. Additionally, 1 hematoxylin and eosin stained slide and 4 unstained slides should be submitted.
Storage Instructions
Ambient temperature is preferred, refrigeration is acceptable.
Causes for Rejection
Specimens not adhering to stability and fixation requirements may be rejected.