NUTM1 (15q14) Rearrangement, FISH, Tissue
Use
Identifying NUTM1 gene rearrangements in patients with nuclear protein in testis midline carcinoma to aid in confirming or excluding the diagnosis. Nuclear protein in testis (NUT) midline carcinomas (NMC) are rare aggressive tumors with rapid onset. Although NMC has been described in several anatomic sites, it is commonly observed in the head, neck, or thorax. These tumors are poorly differentiated and defined by rearrangement of the NUTM1 gene on chromosome 15q14. In the majority of cases, NUTM1 is rearranged in an apparently balanced translocation with the BRD4 gene on chromosome 19p13.1; however, other partners for NUTM1 rearrangement have been reported. NUTM1 rearrangement has not been identified in other midline malignancies. Therefore, a separation of NUTM1, in the proper clinical and histologic context, is diagnostic for NMC and can be confirmed by fluorescence in situ hybridization with NUT break-apart probes.
Special Instructions
Not provided.
Limitations
This test is not approved by the US Food and Drug Administration, and it is best used as an adjunct to existing clinical and pathologic information. This test is only intended to be used in the diagnosis of nuclear protein in testis midline carcinomas (NMC). The results of this test are intended to be interpreted in association with the pathologic and clinical findings. Fixatives other than formalin (eg, Prefer, Bouin) may not be successful for fluorescence in situ hybridization (FISH) assays, however non-formalin fixed samples will not be rejected. 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.
New York Approved
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Unknown CNV
Copy Number Region
LOINC Codes
- 50397-9 - Mol dx interp Bld/T Ql
- 69965-2 - Clinical cytogeneticist review
- 62356-1 - Chrom analy result (ISCN)
- 42349-1
- 31208-2 - Specimen source
- 80398-1 - Unique ID Current sample
- 85069-3 - Lab test method
- 48767-8 - Annotation comment Imp
- 62364-5 - Test performance info Spec
- 18771-6 - Provider signing name
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
4 Consecutive, unstained, 5 micron-thick sections
Minimum Volume
2 consecutive, unstained, 5 micron- thick sections
Container
Formalin-fixed, paraffin-embedded tumor tissue block or slides
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient |