2 - 7 days
CLEAR CELL SARCOMA ASSAY
t(12;22)(q13;q12) Translocation Detection
Clear Cell Sarcoma Translocation Detection
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Reverse Transcription Polymerase Chain Reaction (PCR) with capillary electrophoresis
Greater than 90% of clear cell sarcomas harbor the reciprocal chromosomal translocation t(12;22)(q13;q12). This rearrangement joins the EWSR1 and ATF1 genes and leads to expression of EWSR1/ATF1 fusion transcripts. This test detects three EWSR1/ATF1 fusion transcript types: Type 1 (EWSR1 exon 8/ATF1 exon 4), Type 2 (EWSR1 exon 7/ATF1 exon 5), and Type 3 (EWSR1 exon 10/ATF1 exon 5) which collectively account for almost all t(12;22)-bearing clear cell sarcoma cases. Testing for EWSR1/ATF1 fusion is a useful diagnostic adjunct in the differential diagnosis of clear cell sarcoma, since malignant melanoma is not associated with this chimeric transcript.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
A formalin-fixed, paraffin-embedded tissue block containing an area with a high percentage of neoplastic cells (for micro-/macro-dissection) is preferred. Unstained, UNBAKED slides (5-8, 10-micron slides; 10-15 if few neoplastic cells are present) with associated H&E stained slide are also acceptable. Decalcified tissue or other fixatives will be accepted and the assay attempted, however these may result in failed testing due to degraded nucleic acid. Both blocks and slides should be stored at room temperature.