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
Not provided.
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
DDIT3
Gene
LOINC Codes
- 101379-6 - DDIT3 gene rearrangement Bld/T FISH
- 50397-9 - Mol dx interp Bld/T Ql
- 69965-2 - Clinical cytogeneticist review
- 62356-1 - Chrom analy result (ISCN)
- 42349-1
- 31208-2 - Specimen source
- 80398-1 - Unique ID Current sample
- 85069-3 - Lab test method
- 48767-8 - Annotation comment Imp
- 18771-6 - Provider signing name
- 62364-5 - Test performance info Spec
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.