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.

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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
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article

NUTM1-BRD4 fusion mutation-positive salivary gland myoepithelial carcinoma: A diagnostic conundrum

Priyanka Srivastava, Siddharth Shah, Amruta Tripathy, Meet J. Ladani
International Journal of Molecular and Immuno Oncology
Protein Degradation and Inhibitors
article

NUTM1-BRD4 fusion mutation-positive salivary gland myoepithelial carcinoma: A diagnostic conundrum

Priyanka Srivastava, Siddharth Shah, Amruta Tripathy, Meet J. Ladani
article en

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.

International Journal of Molecular and Immuno OncologyVol. 10
Shree Krishna Hospital (IN), Zydus Lifesciences Limited (India) (IN)
Openalex Percentile: Top 92%
Protein Degradation and Inhibitors
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