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Test ID: NR4A3    
NR4A3 (9q22.33) Rearrangement, FISH, Tissue

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Useful For Suggests clinical disorders or settings where the test may be helpful

Identifying NR4A3 gene rearrangements in patients with extraskeletal myxoid chondrosarcoma (EMC)

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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.

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.

An interpretive report will be provided.

Interpretation Provides information to assist in interpretation of the test results

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.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

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.

Supportive Data

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.

Clinical Reference Recommendations for in-depth reading of a clinical nature

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