Identifying NR4A3 gene rearrangements in patients with extraskeletal myxoid chondrosarcoma (EMC)
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 |
This test does not include a pathology consult. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered and the appropriate FISH test will be ordered and performed at an additional charge.
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.
Additional charges will be incurred for all reflex probes performed. 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.
Fluorescence In Situ Hybridization (FISH)
NR4A3 rearrangement
9q22.33
Extraskeletal Myxoid Chondrosarcoma
NR4A3
This test does not include a pathology consult. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered and the appropriate FISH test will be ordered and performed at an additional charge.
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.
Additional charges will be incurred for all reflex probes performed. 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.
Tissue
Advise Express Mail or equivalent if not on courier service.
1. A pathology report is required in order for testing to be performed. Acceptable pathology reports include working drafts, preliminary pathology or surgical pathology reports.
2. 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.
Question ID | Description | Answers |
---|---|---|
CG999 | Reason for Referral |
Submit only 1 of the following specimens:
Specimen Type: Tissue
Container/Tube: Formalin-fixed, paraffin-embedded tumor tissue block
Specimen Type: Slides
Specimen Volume: Four Consecutive, unstained, 5 micron-thick sections placed on positively charged slides and 1 hematoxylin and eosin-stained slide
Two consecutive, unstained, 5 micron-thick sections placed on positively charged slides and 1 hematoxylin and eosin-stained slide.
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Tissue | Ambient (preferred) | ||
Refrigerated |
Identifying NR4A3 gene rearrangements in patients with extraskeletal myxoid chondrosarcoma (EMC)
This test does not include a pathology consult. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered and the appropriate FISH test will be ordered and performed at an additional charge.
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.
Additional charges will be incurred for all reflex probes performed. 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.
The gene NR4A3 is often altered in patients with extraskeletal myxoid chondrosarcomas (EMC). Rearrangement of the NR4A3 gene region may be involved with up to 4 partner genes as a pathway to EMC. FISH analysis allows for the detection of rearrangement of the NR4A3 gene region.
An interpretive report will be provided.
A positive result with the NR4A3 probe is detected when the percent of cells with an abnormality exceeds the normal cutoff for the probe set. A positive result of NR4A3 suggests inactivating structural alterations of the NR4A3 gene region at 9q22.33. A negative result suggests no structural alterations of the locus.
This test is not approved by the FDA and should be used as an adjunct to existing clinical and pathologic information.
Fixatives other than formalin (eg, Prefer, Bouin) may not be successful for FISH assays. Although FISH testing will not be rejected due to nonformalin fixation, results may be compromised.
Paraffin-embedded tissues that have been decalcified are generally unsuccessful for FISH analysis. The pathologist reviewing the hematoxylin and eosin-stained slide may find it necessary to cancel testing.
FISH analysis was performed on 27 formalin-fixed paraffin-embedded specimens including 21 extraskeletal myxoid chondrosarcoma (EMC) tissue samples, 6 non-EMC sarcomas, and 25 noncancerous control specimens. The normal controls were used to generate the normal cutoff values. Structural alterations resulting in the rearrangement of the NR4A3 gene region were identified and results correlated with pathology findings.
Benini S, Cocchi S, Gamberi G, Magagnoli G, et al: Diagnostic utility of molecular investigation in extraskeletal myxoid chondrosarcoma. J Mol Diagn 2014 May;16(3):314-323
This test uses a laboratory developed NR4A3 (9q22.33) dual-color break-apart probe (BAP) strategy. Formalin-fixed paraffin-embedded tissues 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 etcher on the back of the unstained slide to be assayed. The probes are hybridized to the appropriate target areas and 2 technologists analyze each probe set. Using the NR4A3 probe set, each technologist analyzes 50 interphase nuclei (100 total) and the results are expressed as the percent of abnormal nuclei.(Unpublished Mayo method)
Monday through Friday
This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.
88271 x 2, 88291-DNA probe, each (first probe set), Interpretation and report
88271 x 2-NA probe, each; each additional probe set (if appropriate)
88271 x 1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)
88271 x 2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)
88271 x 3-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)
88275-Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
NR4A3 | NR4A3, Rearrangement, FISH, Ts | 21796-8 |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
92340 | Result Summary | 50397-9 |
92341 | Interpretation | 69965-2 |
92342 | Result | 62356-1 |
92343 | Specimen | 31208-2 |
92344 | Source | 31208-2 |
92345 | Tissue ID | 80398-1 |
92346 | Method | 85069-3 |
92347 | Additional Information | 48767-8 |
92348 | Disclaimer | 62364-5 |
92349 | Released By | 18771-6 |
CG999 | Reason For Referral | 42349-1 |