Basic Facts About NUT Carcinoma
NUT carcinoma (NC) is a rare, genetically defined, aggressive human cancer defined by rearrangements of the gene NUT. In the majority (approximately 75%) of NCs most of the coding sequence of NUT on chromosome 15q14 is fused to BRD4 or BRD3, creating chimeric genes that encode BRD-NUT fusion proteins. In the remaining cases, NUT is fused to an unknown partner gene; these tumors are termed NUT-variant. Diagnosis of NC is made by demonstration of expression of the NUT-fusion protein using a monoclonal antibody to NUT for immunohistochemistry or demonstration of the fusion (BRD-NUT or NUT-variant) by fluorescent in situ hybridization or other molecular analyses. Because the reagents and expertise required to diagnose NC are not available in most laboratories, and the incomplete awareness of this disease, NC is frequently undiagnosed or misdiagnosed, and its actual prevalence is unknown. We diagnose NC routinely, and are happy to evaluate new cases for diagnosis and treatment. We currently see >50 cases annually.
Pathology
As a genetically defined cancer, NC cannot be diagnosed by morphology alone. The diagnosis of NUT midline carcinoma requires specific and sensitive immunohistochemistry (IHC) testing, performance of fluorescence in situ hybridization (FISH), or genetic sequencing that can identify the NUT fusion.
Consultations
Pathology consultation is available for referring physicians to help with initial diagnosis of NUT carcinoma. Click HERE for specific contact information.