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Enrichment of SMARCA4 mutations in lung carcinomas presenting as cancer of unknown primary.

Lung cancer (Amsterdam, Netherlands) - 1 Aug 2026

Martinot Tobias, Schonewille Lydia H N, Ruano Dina, Steeghs Elisabeth M P, van Wezel Tom, Theelen Willemijn S M E, Smit Vincent T H B M, Snaebjornsson Petur, Smit Egbert F, Monkhorst Kim, Cohen Danielle

Abstract excerpt

OBJECTIVES: Identifying the primary tumor in cancer of unknown primary (CUP) remains a major clinical challenge. While WGS-based tissue-of-origin (TOO) prediction has improved diagnostic precision, its use is constrained by cost and availability. We investigated whether a low-complexity surrogate, combining SMARCA4 mutations and smoking history, can identify a lung cancer origin in CUP (CUP-Lung). METHODS: We...

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PMID: 42349087
DOI: 10.1016/j.lungcan.2026.109502

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SMARCA4

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