NUTM1-BRD4 fusion mutation-positive salivary gland myoepithelial carcinoma: A diagnostic conundrum
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 (ORCID: https://orcid.org/0000-0003-1840-5711)
- Siddharth Shah (ORCID: https://orcid.org/0000-0003-0452-0241)
- Amruta Tripathy (ORCID: https://orcid.org/0000-0002-7011-7920)
- Meet J. Ladani
Institutions
- Shree Krishna Hospital (IN)
- Zydus Lifesciences Limited (India) (IN)
Publication Details
- Journal
- International Journal of Molecular and Immuno Oncology
- Published
- 2025-04-30
- DOI
- https://doi.org/10.25259/ijmio_2_2025
- Primary Topic
- Protein Degradation and Inhibitors
- Type
- article
- Field-Weighted Citation Impact
- 0.00