NUTM1 (15q14) Rearrangement, FISH, Tissue

Casandra

Casandra Test Code MC47643Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID NUT1FCPT Codes 88271, 88274, 88275

NUTM1 (15q14) Rearrangement, FISH, Tissue

Clinical Use

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.

Test Details

New York Approved