Justin Kim
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Justin Kim
@justinjkim.bsky.social
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Reposted by Justin Kim
jia-luo.bsky.social
1/ In JCO: PO, we describe the presentation of NUT carcinoma- it almost always presents as a poorly differentiated/ squamous lung, head and neck cancer, with a mean biopsy to diagnosis interval of 7 weeks (!)

🫁 🗣️ doi.org/10.1200/PO-2... #medsky #oncsky #lungcancer @ascocancer.bsky.social
🧵A thread:
Abstract Purpose Diagnostic delays are common for patients with NUT carcinoma (NC), a cancer driven by NUT fusion oncoprotein. Rapid diagnosis is crucial for the best outcomes. We investigated NC's presenting features and associations with diagnostic delays. Methods We manually reviewed medical records from US participants in the NC Registry (2007-2024). Baseline features were analyzed descriptively, and multivariable logistic regression was used to examine odds ratios for delays. Results We analyzed 132 patients (median age 37 years). At presentation, 55% had metastatic disease and 64% had a thoracic primary. The median interval from symptom onset to diagnosis was 10 weeks (range, 1-165 weeks). The initial histopathologic diagnosis was poorly differentiated/squamous cell cancer in 52%, insufficient malignant cells in 14%, carcinoma in 12%, and NC in 22%. Immunohistochemistry (IHC) testing revealed NUT in 100%; 93% were keratin+, 88% p63+, 89% p40+, and 72% had Ki-67 ≥50%. IHC was used to diagnose NC in 79%. Nonthoracic primaries were associated with a longer time between symptom onset and NC diagnosis (odds ratio, 3.25). Of 32 patients who started treatment before diagnosis, 78% were on agents appropriate for NC. After a diagnosis of NC, 33% participated in clinical trials. Conclusion NC almost always presents as squamous/poorly differentiated non–small cell lung or head and neck cancer. Overall, 78% of patients were initially diagnosed as non-NC. Efforts to raise awareness, recognition, and rapid diagnosis of NC by both oncologists and pathologists are critical if we are to improve outcomes.
December 7, 2025 at 2:05 PM
Reposted by Justin Kim
danafarber.bsky.social
In a study published in @theaacr.bsky.social's Clinical Cancer Research, researcher @jia-luo.bsky.social uncovered the potential for underdiagnosis of NUT carcinoma and identified additional tests required for an accurate diagnosis.

Read more: bit.ly/4nW4Ld4
Study Paves Path to Improved Diagnosis, Treatment of NUT Carcinoma
The diagnosis of a suspected lung, head, and neck cancer called NUT carcinoma should include additional testing capable of detecting gene fusions that are definitive markers of the disease, according to a study by Dana-Farber Cancer Institute investigators. The study showed that more than 75 percent of patients with NUT carcinoma may not be immediately diagnosed because standard-of-care DNA testing does not detect NUT carcinoma fusion genes.
bit.ly
August 7, 2025 at 1:00 PM
Reposted by Justin Kim
jia-luo.bsky.social
1/ In Clinical Cancer Research, we examined underdiagnosis of NUT carcinoma, an aggressive squamous lung, head and neck cancer, and found >75% are missed on standard of care testing (DNA panel NGS)

🫁 🗣️ doi.org/10.1158/1078... #medsky #oncsky #meded #lcsm #lungcancer @theaacr.bsky.social

🧵A thread:
Molecular characterization of NUT carcinoma: a report from the NUT carcinoma registry Abstract Purpose: NUT carcinoma (NC) is an underdiagnosed, poorly differentiated squamous cell cancer with a median survival of 6.7 months. Defined by NUTM1 fusions, NC enhances oncogene transcription, including MYC. We investigated the ability of standard next-generation sequencing (NGS) to identify NUTM1 fusions and describe additional molecular features of NC. Experimental Design: This study included 116 NC patients whose tumors underwent broad-panel NGS (>80 genes) of DNA, ctDNA, and/or RNA fusion sequencing between 2013-2024. NGS reports and medical records were manually reviewed. Results: Of 116 patients (median age 38, 40.5% female), 84.5% had DNA, 12.1% had ctDNA, and 51.7% had RNA fusion testing. In a subset of 100 patients with DNA/ctDNA testing, 92.9% (n=79/85) had <10 pack-years/never-smoking history, and 58.8% (n=47/80) had a BRD4::NUTM1 fusion. Median TMB was 1.0 mut/Mb (range 0.0-16.0; n=71 known), and 19.7% (n=13/66) had PD-L1 expression ≥1%. DNA, ctDNA, RNA fusion, NUT IHC, and NUTM1 FISH detected NC fusions in 21.6%, 21.4%, 83.9%, 100.0%, and 91.9% of tests, respectively. Co-occurring pathogenic mutations included oncogenes PIK3CA, RET, FGFR3, and tumor suppressors ATM and BRCA1 (n=1 each). Secondary genes altered in >5% of NCs included LRP1B (10.4%), MLL2/KMT2D (8.0%), and FAT1 (5.5%); common pathways with mutated genes were epigenetic (57.0%), cell cycle (26.0%), and DNA repair (24.0%). Conclusions: Standard DNA NGS detects less than a quarter of NUT carcinomas; RNA-based fusion testing, or NUT IHC/NUTM1 FISH, should be routine for suspected NC. NCs are enriched in co-occurring epigenetic, cell cycle, and DNA repair alterations, warranting further evaluation.
July 28, 2025 at 11:22 AM
Reposted by Justin Kim
jia-luo.bsky.social
A season of celebration - huge congratulations to superstar mentees who will be moving on to new adventures, including UCLA med and Harvard med!! The future is bright!
April 4, 2025 at 9:47 AM
Reposted by Justin Kim
jia-luo.bsky.social
🌟 Justin Kim (MD-to-be) and Sara Walton (MPH student) presenting on the defining features of NUT carcinoma at #TTLC25

#lcsm #oncsky

🙏🏻 to our collaborators on this effort
February 22, 2025 at 7:09 AM