Alternative Name
Ubiquitin specific peptidase 6
Methodology
FISH
Test Description
Probe(s): USP6 (17p13.2)
Disease(s): Nodular fasciitis, aneurysmal bone cysts
Clinical Significance
USP6 gene rearrangements (fusions) are commonly found in nodular fasciitis (NF), aneurysmal bone cysts (ABC), myositis ossificans (MO), fibro-osseous pseudotumor of digit (FOTD), and fibroma of tendon sheath. Presence of a USP6 rearrangement can serve as a valuable marker for differentiating these neoplasms, many of which are self-limiting, from other neoplasms and malignancies with similar histological appearance.
Specimen Requirements
- Bone marrow aspirate: N/A
- Peripheral blood: N/A
- Fresh, unfixed tissue: N/A.
- Fluids: N/A
- Paraffin block: Send paraffin block. Also send circled H&E slide for tech-only (required).
- Cut slides: H&E slide (required) plus 4 unstained slides cut at 4-5 microns. Circle H&E slide for tech-only.
- Reminder about decalcified specimens: Testing will be attempted but most decalcification solutions are incompatible with FISH. Limited acid decalcification (<24 hours) in 5% formic acid or EDTA decalcification may better preserve DNA for FISH.
Storage & Transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
CPT Code(s)*
88374x1 automated or 88377x1 manual
Turnaround Time
5 days 3 for tech-only
Level of Service
Global
Technical
New York Approved
Yes
References
- Hiemcke-Jiwa L, van Gorp JM, Fisher C, et al. USP6-associated neoplasms: A rapidly expanding family of lesions. Int J Surg Path. 2020;28(8):816-825.