Test ID: 60714
USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH
NY State Approved 
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis
Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| 60254 | AP Special Studies Review | No | Yes |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
This test is performed in conjunction with 60254 Anatomic Pathology Special Studies Review. Additional testing may be performed after review by pathologist. Upon approval from the requesting clinician, 60254 Anatomic Pathology Special Studies Review could be changed to 5439 Surgical Pathology Consultation, if determined to be more appropriate.
Method Name A short description of the method used to perform the test
Fluorescence In Situ Hybridization (FISH) with DNA probes
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Aneurysmal bone cyst
Nodular fasciitis
NF
ABC
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
A pathology/diagnostic report and a brief history are required.
Specimen Type:
Preferred: Formalin-fixed, paraffin-embedded (FFPE) tissue block
Acceptable: Unstained glass, "positively charged" slides with FFPE tissue; slides may be stained and/or scraped.
Collection Instructions:
1. If submitting slides, a minimum of ten, 4- to 5-micron thick, unstained slides are required if also requesting a Surgical Pathology Consultation; a minimum of three, 4- to 5-micron thick, unstained slides are required if not requesting a Surgical Pathology Consultation.
2. Process all specimens into FFPE blocks prior to submission.
Additional Information:
1. A quality specimen is essential for evaluation. Submit only tissue containing tumor cells; minimal tissue is required for evaluation.
2. Special stains performed outside Mayo Medical Laboratories and included with the case may be repeated and charged at the reviewing pathologist's discretion. Testing requested by referring physician may not be performed if deemed unnecessary by Mayo Clinic pathologist.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | NA |
| Lipemia | NA |
| Icterus | NA |
| Other | Decalcified specimens |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | |
| Refrigerated | ||
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Aneurysmal bone cyst (ABC) is a multicystic and expansile bone tumor of uncertain line of differentiation. USP6 fusion genes 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 rapid growth, rich cellularity, and brisk mitotic activity may lead to a misdiagnosis of sarcoma. USP6 fusions 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 Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
0-9% rearranged cells
Interpretation Provides information to assist in interpretation of the test results
An interpretive report will be provided.
A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for the USP6 FISH probe (positive result).
A positive result is consistent with rearrangement of the USP6 gene locus on 17p13 and supports the diagnosis of aneurysmal bone cyst (ABC) or nodular fasciitis (NF). A negative result is consistent with no rearrangement of the USP6 gene locus on 17p13. However, this result does not exclude the diagnosis of ABC or NF. Rearrangement varies in individual tumors and among different cells in the same tumor.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Reliable results are dependent on adequate specimen collection and processing. This test has been validated on formalin-fixed, paraffin-embedded tissues; other types of fixatives are discouraged. Improper treatment of tissues, such as decalcification, may cause FISH failure.
Clinical diagnosis and/or therapy should not be based solely on this assay. The results should be considered in conjunction with clinical information, histologic analysis, and/or additional diagnostic tests.
Supportive Data
In a study by Oliveira et al, 52 primary aneurysmal bone cyst (ABC) specimens were tested by FISH for USP6 locus rearrangements.(2) Thirty-six (69%) ABC showed rearrangement of the USP6 locus.(2) Subsequently, a blinded investigation was performed on 14 ABC, 48 nodular fasciitis (NF), and 39 control tissues. All samples were identified and diagnosed by a soft tissue pathology expert. Two technologists scored 100 cells each. USP6 was found to be rearranged in 11 of 14 (77%) ABC specimens; similar to what is reported in the literature.(1,2) Out of the 11 ABC specimens positive for USP6, 3 (30%) showed CDH11-USP6 rearrangement and 2 (20%) showed COL1A1-USP6 rearrangements, all of which have been reported in the literature.(1,2) USP6 was found rearranged in NF in 44 of 48 (92%) lesions tested. No rearrangement was seen in any of the control tissues.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Oliveira AM, Hsi B, Weremowicz S, et al: USP6 (Tre2) fusion oncogenes in aneurysmal bone cyst. Cancer Res 2004 Mar 15;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 Nov;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, Lyon, France, 2005, pp 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
Method Description Describes how the test is performed and provides a method-specific reference
Formalin-fixed, paraffin-embedded tissues are cut at 4 microns and mounted on positively-charged glass slides. Five slides are prepared, with 1 to 2 slides stained with hematoxylin and eosin (H and E); the other 3 are left unstained. The selection of tissue and the identification of target areas on 1 of the stained slides are performed by a pathologist. Using the H and E slide as a reference, target areas are etched with a diamond-tipped etcher on the back of the unstained slide. Abnormalities involving USP6 at the 17p13 locus are detected using a FISH break-apart probe (BAP) (Mayo Clinic developed). The probe design consists of DNA derived from bacterial artificial chromosomes (BACs) flanking the USP6 locus. The 5' end is labeled with spectrum orange (R) and the 3' end is labeled with spectrum green (G). The probe set is applied to the appropriate target areas, denatured, and hybridized overnight. Two independent technologists analyze 100 interphase nuclei each (200 total). Normal interphase nuclei show 2F (fusion) signals. Abnormal nuclei will have 1F+1R (> or =10%), 1F+1G (> or =10%), 1R1G (> or =5%), and 1F+1R+1G (> or =5%). The sample is positive if there are > or =10% abnormal cells in 200 cells and is reported out as positive or negative for USP6 rearrangement in International System for Human Cytogenetic Nomenclature. The results are interpreted and reported by a working group pathologist.(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; Erickson-Johnson MR, Chou MM, Evers BR, et al: Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion. Lab Invest 2011 Oct;91[10]:1427-1433)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday through Friday; 8 a.m.-4:30 p.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH
88368-Morphometric analysis, in situ hybridization (quantitative or semi-quantitative) each probe; manual
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 60714 | USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fas | In Process |
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