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HelpTest Code USPF USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH, Tissue
Useful For
Identifying USP6 gene rearrangements
Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis when coordinated with an anatomic pathology consultation
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| _PBCT | Probe, +2 | No, (Bill Only) | No |
| _PADD | Probe, +1 | No, (Bill Only) | No |
| _PB02 | Probe, +2 | No, (Bill Only) | No |
| _PB03 | Probe, +3 | No, (Bill Only) | No |
| _IL25 | Interphases, <25 | No, (Bill Only) | No |
| _I099 | Interphases, 25-99 | No, (Bill Only) | No |
| _I300 | Interphases, >=100 | No, (Bill Only) | No |
Testing Algorithm
This test includes a charge for the probe application, analysis, and professional interpretation of results for one probe set (2 individual FISH probes). Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.
Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.
Method Name
Fluorescence In Situ Hybridization (FISH)
Reporting Name
USP6 (17p13), FISH, TsSpecimen Type
TissueOrdering Guidance
This test does not include a pathology consultation. If a pathology consultation is requested, order PATHC / Pathology Consultation, and appropriate testing will be added at the discretion of the pathologist and performed at an additional charge.
Multiple oncology (cancer) gene panels are also available. For more information see Hematology, Oncology, and Hereditary Test Selection Guide.
Additional Testing Requirements
Confirmation testing by next-generation sequencing to resolve atypical or unbalanced fluorescence in situ hybridization results of this gene region is available, order SARCP / Sarcoma Targeted Gene Fusion/Rearrangement Panel, Next-Generation Sequencing, Tumor.
Shipping Instructions
Advise Express Mail or equivalent if not on courier service.
Necessary Information
1. A pathology report is required for testing to be performed. If not provided, appropriate testing and/or interpretation may be compromised or delayed. Acceptable pathology reports include working drafts, preliminary pathology, or surgical pathology reports.
2. The following information must be included in the report provided:
-Patient name
-Block number - must be on all blocks, slides, and paperwork
-Date of collection
-Tissue source
3. A reason for testing must be provided. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.
Specimen Required
Submit only 1 of the following specimens:
Preferred
Specimen Type: Tissue block
Collection Instructions:
1. Submit a formalin-fixed, paraffin-embedded tumor tissue block. Blocks prepared with alternative fixation methods will be attempted but are less favorable for successful results by fluorescence in situ hybridization testing.
2. Provide fixation method used.
Additional Information:
1. Paraffin-embedded specimens can be from any anatomic location (skin, soft tissue, lymph node, etc).
2. Bone specimens that have been decalcified will be attempted for testing, but the success rate is approximately 50%.
Acceptable
Specimen Type: Tissue slides
Slides: 1 Hematoxylin and eosin stained and 3 unstained
Collection Instructions: Submit 3 consecutive unstained, positively charged, unbaked slides with 5 micron-thick sections of the tumor tissue and 1 slide stained with hematoxylin and eosin.
Specimen Minimum Volume
Slides: 1 Hematoxylin and eosin stained and 2 unstained
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Tissue | Ambient (preferred) | |
| Refrigerated | ||
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
Aneurysmal bone cyst (ABC) is a multicystic and expansile bone tumor of uncertain line of differentiation. USP6 rearrangements are detectable in approximately 70% of primary ABC and not in other conditions that may simulate ABC histologically, including giant cell tumor of bone, osteosarcoma, osteoblastoma, brown tumor, cherubism, and vascular neoplasms.
Nodular fasciitis (NF) is a self-limited mesenchymal lesion of myofibroblastic differentiation. NF’s rapid growth, rich cellularity, and brisk mitotic activity may lead to a misdiagnosis of sarcoma.
USP6 rearrangements are detectable in 90% of NF but not in other conditions that may simulate NF, including dermatofibroma, cellular fibrous histiocytoma, fibromatosis, and a large variety of sarcomas.
Reference Values
An interpretive report will be provided.
Interpretation
USP6 will be clinically interpreted as positive, negative, or equivocal.
A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal cutoff for the USP6 probe set.
A positive result is consistent with rearrangement of the USP6 gene and likely reflects USP6 fusion with a partner gene. A positive result may support a diagnosis of aneurysmal bone cyst (ABC) or nodular fasciitis (NF). The significance of this finding is dependent on the clinical and pathologic features.
A negative result suggests a USP6 gene rearrangement is not present. A negative result does not exclude the diagnosis of ABC or NF.
Cautions
This test is not approved by the US Food and Drug Administration and is best used as an adjunct to existing clinical and pathologic information.
This fluorescence in situ hybridization (FISH) assay does not rule out other chromosome abnormalities.
Fixatives other than formalin (eg, Prefer, Bouin's) may not be successful for FISH assays. Non-formalin fixed specimens will not be rejected.
Paraffin-embedded tissues that have been decalcified may not be successful for FISH analysis. The success rate of FISH studies on decalcified tissue is approximately 50%, but FISH will be attempted if sufficient tumor is present for analysis.
Fluorescence in situ hybridization studies will be attempted if sufficient tumor is present for analysis. The pathologist reviewing the hematoxylin and eosin-stained slide may find it necessary to cancel testing if insufficient tissue/tumor is available for testing.
If no FISH signals or a lack of sufficient tumor tissue are observed post-hybridization, the case will be released indicating a lack of FISH results.
Clinical Reference
1. Oliveira AM, Hsi B, Weremowicz S, et al. USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst. Cancer Res. 2004;64(6):1920-1923
2. Oliveira AM, Perez-Atayde AR, Inwards CY, et al. USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in so-called secondary aneurysmal bone cysts. Am J Pathol. 2004;165(5):1773-1780
3. Fletcher CDM, Unni KK, Mertens F. World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone. IARC Press; 2005:48-49
4. Erickson-Johnson MR, Chou MM, Evers BR, et al. Fusion of Non-Muscle Myosin MYH9 to USP6 Oncogene in Nodular Fasciitis, USCAP Abstract #39, 2011
5. The World Health Organization Classification of Tumours Editorial Board, eds. Soft Tissue and Bone Tumours, 5th ed. IARC Press; 2020:49-50, 437-439
Method Description
The test is performed using a laboratory-developed USP6 dual-color, break-apart strategy fluorescence in situ hybridization probe set. Paraffin-embedded tissue samples are cut at 5 microns and mounted on positively charged glass slides. The selection of tissue and the identification of target areas on the hematoxylin and eosin (H and E)-stained slide are performed by a pathologist. Using the H and E-stained slide as a reference, target areas are etched with a diamond-tipped engraving tool on the back of the unstained slide to be assayed. Each probe set is hybridized to the appropriate target areas, as indicated on the H and E, and 100 interphase nuclei are scored within the targeted areas. The results are expressed as the percent of abnormal nuclei.(Unpublished Mayo method)
Day(s) Performed
Monday through Friday
Report Available
7 to 10 daysSpecimen Retention Time
Slides used for analysis are retained by the laboratory in accordance with regulatory requirements. Client provided paraffin blocks and extra unstained slides (if provided) will be returned after testing is complete.Performing Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
88271x2, 88291-DNA probe, each (first probe set), Interpretation and report
88271x2-DNA probe, each; each additional probe set (if appropriate)
88271x1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)
88271x2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)
88271x3-DNA probe, each; coverage for sets containing 5 probes (if appropriate)
88274 w/modifier 52-Interphase in situ hybridization, <25 cells, each probe set (if appropriate)
88274-Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| USPF | USP6 (17p13), FISH, Ts | 101635-1 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 54705 | Result Summary | 50397-9 |
| 54708 | Interpretation | 69965-2 |
| 54707 | Result | 62356-1 |
| CG952 | Reason for Referral | 42349-1 |
| 54920 | Specimen | 31208-2 |
| 54710 | Source | 31208-2 |
| 54711 | Tissue ID | 80398-1 |
| 55134 | Method | 85069-3 |
| 55135 | Additional Information | 48767-8 |
| 53395 | Disclaimer | 62364-5 |
| 54712 | Released By | 18771-6 |
Forms
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.