NUTM1-BRD4 fusion mutation-positive salivary gland myoepithelial carcinoma: A diagnostic conundrum
Year: 2025
Type: article
Study design: Case Report
Abstract: Nuclear protein of the testis (NUT) carcinoma is an extremely rare and aggressive malignancy characterized by NUTM1 gene rearrangements, often presenting as poorly differentiated tumors in midline structures. This case describes a 27-year-old male with a rapidly progressive nasal mass extending into adjacent structures, ultimately diagnosed as NUT carcinoma of salivary gland origin through molecular confirmation of the BRD4-NUT fusion. Despite surgery, radiotherapy, and systemic chemotherapy, the disease exhibited poor response and aggressive progression, consistent with its known high mortality and resistance to conventional treatment. This case underscores the importance of molecular diagnostics in diagnosing rare cancers and highlights the urgent need for targeted therapies such as bromodomain and extraterminal inhibitors to improve outcomes.
Authors: Priyanka Srivastava, Meet J. Ladani, Amruta Tripathy, Siddharth Shah
Institutions: Shree Krishna Hospital, Zydus Lifesciences Limited (India)
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4409971166