The importance of diagnosing NUT midline carcinoma.

ABSTRACT: NUT midline carcinoma (NMC) is an aggressive subset of squamous cell carcinoma, genetically defined by rearrangement of the NUT gene. The rearrangements most often take the form of BRD4-NUT fusions, and in a minority of cases, BRD3-NUT or NUT-variant fusions. The simple karyotypes of NMCs, in contrast to the complex ones of typical squamous cell carcinoma, suggest an alternate, genetic shortcut to squamous cancer. Although originally thought to be a disease of the mediastinum, NMC frequently (35 %) arises in the head and neck. Diagnosis is made simply by demonstration of nuclear immunoreactivity to NUT protein, and ancillary studies to characterize the fusion oncogene, though not required for diagnosis, are recommended. The prognosis is dismal, with a 6.7 month median survival, and treatme

SUBMITTER: French CA 

PROVIDER: S-EPMC3597165 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature