Test Directory

USP6 gene rearrangement

Containers - Adult

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FFPE block / H&E slide / Pathology report

Laboratory Site

RIE
51 Little France Crescent
Old Dalkeith Road
Edinburgh
EH16 4SA
Telephone: 0131 536 1000

Transport arrangements

Referral specimens should be sent directly to Molecular Pathology at the above address (see transport recommendations). For patients with pathology specimens held within NHS Lothian there is no need to arrange transport of specimens.

How to request

Testing for NHS Lothian patients can be requested by email to molecular.pathology@nhslothian.scot.nhs.uk or by discussion with an NHS Lothian Pathologist. Referral requests may be accompanied by a completed request form or covering letter.

Please also refer to our detailed requesting instructions.

Availability

Monday - Friday. 09:00 – 17:00

Anticipated turnaround

Turnaround times will vary depending on the nature of the report required.  Fully integrated pathological diagnostic reports will be prepared in line with Pathology department turnaround times.

Individual FISH results should be available within 10 working days. See results.

Static information/disclaimer

This test is accredited to ISO 15189.

General additional information

Aneurysmal bone cyst (ABC) is a benign expansile osteolytic neoplasm which may arise de novo or secondary to a pre-existing bone tumour.  Around 70% of primary ABCs demonstrate spindle cells with translocations involving ubiquitin-specific peptidase 6 (USP6) with promoter partners including CDH11, COL1A1, OMD, TRAP150 and ZNF9, leading to transcriptional upregulation of USP6.  Such translocations are absent in secondary/reactive ABC.

USP6 rearrangements with MYH9 at 22q12.3 are detectable in 90% of cases of nodular fasciitis (NF), a self-limited mesenchymal lesion of myofibroblastic differentiation.

A positive USP6 gene rearrangement result is considered to be supportive evidence where a pathological diagnosis of NF or primary ABC is being considered.

USP6 gene rearrangements are detected by break-apart fluorescence in-situ hybridisation (FISH) analysis.  The method will identify a chromosomal rearrangement involving the USP6 locus at 17p13.2, but not the specific gene fusion partner.

For clinical advice on appropriate investigations, please contact Dr Anca Oniscu:

Tel: 0131 242 7140

E-mail: Anca.oniscu@nhslothian.scot.nhs.uk.