Fluorescence In Situ Hybridization (FISH)
The USP6 gene (also known as TRE17), localized to chromosome 17p13, encodes a protein involved in deubiquitination and regulation of vesicle-mediated transport. Rearrangements of USP6 result in promoter swapping, driving increased USP6 expression, altered of bone morphogenic protein pathway and Wnt signaling, and altered balance of osteoclastic to osteoblastic activity. USP6 rearrangements have been described in approximately 59-69% of primary aneurysmal bone cysts (most commonly involving CDH11) and 86%-92% of nodular fasciitis (particularly rearrangements involving MYH9). So-called secondary aneurysmal bone cysts associated with giant cell tumor, chondroblastoma, osteoblastoma and fibrous dysplasia do not display these rearrangements. USP6 rearrangements have also been described in tumors diagnosed as so-called cellular fibroma of tendon sheath as well as myositis ossificans. Detection of USP6 rearrangements may be useful in distinguishing nodular fasciitis and primary aneurysmal bone cyst from histological mimics.
Interpretive report provided.
*Reference ranges may change over time. Please refer to the original patient report when evaluating results.
This test will detect rearrangements involving USP6 but will not identify the translocation partner. This test may fail to detect intrachromosomal rearrangements or submicroscopic insertions in some cases
3 – 10 days
A formalin-fixed, paraffin-embedded tissue block (containing sufficient neoplastic cells) is preferred. Unstained slides (3 slides cut at 4-microns) with associated H&E-stained slide are also acceptable. Decalcified tissue or tissues with other fixatives will be accepted and the assay attempted; however, these specimens may result in failed testing due to degraded nucleic acid. Both blocks and slides should be stored at room temperature.
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.