AI Article Synopsis

  • - NUT carcinoma (NC) is a rare and aggressive cancer associated with a specific gene fusion resulting from a chromosomal translocation (t(15:19)), primarily found in the upper part of the body but also emerging in other areas.
  • - Diagnosing NC is difficult based on appearance alone, but can be effectively done using specialized tests like immunohistochemistry for the NUT protein or by detecting the BRD4::NUTM1 fusion gene.
  • - A recent case involved a 39-year-old man previously diagnosed with sinonasal squamous cell carcinoma, whose condition was reclassified to NC after further examination and testing, demonstrating the importance of accurate diagnosis for effective targeted treatment options currently in development.

Article Abstract

NUT carcinoma (NC) is a highly aggressive, poorly differentiated carcinoma that harbors a t(15:19) translocation, leading to the fusion of the NUTM1 gene. While the upper aerodigestive tract along the midline (head, neck, thorax, and mediastinum) is commonly reported as the primary site of NC, subsequent cases have emerged in diverse locations. Achieving a definitive diagnosis based solely on morphology is challenging; however, it can be achieved using immunohistochemistry (IHC) specific to the NUT antibody or by demonstrating the characteristic BRD4::NUTM1 fusion. Accurate and timely diagnosis can potentially inform patient management and guide treatment. While histologic documentation of NC is commonly found, there is a limited description of its cytologic features. A 39-year-old male with a history of sinonasal squamous cell carcinoma (SCC) presented with a right parotid mass aspirated via fine needle aspiration cytology (FNA). Histologic examination of the previous sinonasal pathology reviewed at our institution revealed sheets of primitive-appearing, monotonous, undifferentiated cells with distinct, prominent nucleoli. Additionally, there were foci of abrupt keratinization, accompanied by a notable neutrophilic infiltrate. The initial diagnosis of SCC was reclassified to NC and confirmed through NUT IHC and molecular testing. Although the parotid FNA initially suggested the possibility of a variety of small round blue cell tumors, it exhibited morphological similarities to the sinonasal tumor, leading to the diagnosis of metastatic NC. Cytomorphologic features of NC are limited and can overlap with various small round blue cell tumors. Correct classification is especially pivotal in the era of targeted therapy, considering the ongoing development and evaluation of BET inhibitors targeting BRD4.

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Source
http://dx.doi.org/10.1002/dc.25335DOI Listing

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