Adding checkpoint inhibitors to first-line chemotherapy for NUT carcinoma patients

Abstract Rare cancers present significant challenges in diagnosis, treatment, and research, accounting for up to 25% of global cancer cases. Due to their rarity and atypical presentations, they are often misdiagnosed, resulting in late-stage detection and poor outcomes. Here, we describe a patient c...

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Bibliographic Details
Main Authors: Sarah Haebe, Gesa Schuebbe, Philipp Jurmeister, Michael von Bergwelt-Baildon, C. Benedikt Westphalen, Ulrich M. Lauer, Wolfgang G. Kunz, Marion Subklewe, Oliver Weigert
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:npj Precision Oncology
Online Access:https://doi.org/10.1038/s41698-024-00768-7
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Summary:Abstract Rare cancers present significant challenges in diagnosis, treatment, and research, accounting for up to 25% of global cancer cases. Due to their rarity and atypical presentations, they are often misdiagnosed, resulting in late-stage detection and poor outcomes. Here, we describe a patient case with advanced metastatic nasopharynx NUT carcinoma, one of the rarest and most aggressive cancers. We conducted a comprehensive analysis of this patient’s tumor, including Tumor Mutation Burden, Microsatellite Instability, and genetic profiling to explore further putative druggable targets. The tumor exhibited high PD-L1 expression and showed a notable response to immune checkpoint inhibitors when combined with platinum-based radio-chemotherapy. Our findings indicate that checkpoint inhibitors could play a critical role in treating NUT carcinoma, offering new therapeutic avenues and hope for patients with this challenging diagnosis. Whether PD-L1 expression may be a useful predictor of immune checkpoint inhibitor efficacy warrants further research.
ISSN:2397-768X