2025 Targeted Therapies of Lung Cancer (TTLC) - Posters-PP01.13 Presenting features and diagnostic delays of NUT carcinoma: A report from the NUT carcinoma registry

PP01.13 Presenting features and diagnostic delays of NUT carcinoma: A report from the NUT carcinoma registry

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The study explores the clinical presentation and diagnostic challenges of NUT carcinoma (NC), a rare and aggressive cancer linked to the NUT fusion oncoprotein. Most commonly presenting as poorly differentiated tumors in the lung, head, or neck, NC is identified by specific IHC staining (NUT IHC) with 100% specificity. This cancer often affects individuals in their 20s to 40s, though cases span a wide age range. <br /><br />The study included a registry of 271 patients, out of which 132 had complete data for analysis, with 76 metastatic and 56 non-metastatic cases. Delays in diagnosis are significant, with a median interval of 10.2 weeks from initial symptoms to diagnosis and some cases taking as long as 131.1 weeks. Delays are linked with patient demographics, including older age and female sex. About 24% of patients began treatment prior to a confirmed NC diagnosis, often with regimens not recommended for NC. Post-diagnosis, 67% of patients did not participate in clinical trials.<br /><br />Most tumors had positive squamous cell markers, and NC diagnoses were confirmed by testing for specific proteins like keratin, p63, and p40, with high Ki-67 proliferation indices. Delayed diagnosis often results from delayed biopsy processing, emphasizing the need for improved education and awareness around NC's clinical characteristics and presentation for timely diagnosis.<br /><br />Demographically, the median patient age was 36.5 years, and most were white. Approximately 38% were female, and over half of the cases with a known fusion had the BRD4::NUTM1 fusion. The presentation findings highlight thoracic and head/neck primary sites in 97% of cases and metastatic disease at the time of diagnosis in 58% of the cohort. The research underscores the need for early detection and appropriate line-of-treatment to improve patient outcomes for NC.

Asset Subtitle

Sara Walton

Keywords

NUT carcinoma

diagnostic challenges

NUT fusion oncoprotein

IHC staining

metastatic cases

delayed diagnosis

clinical trials

squamous cell markers

BRD4::NUTM1 fusion

early detection