Examining the role of extrachromosomal DNA in lung cancer

JNCI Journal of the National Cancer Institute 2026 Open access

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Authors: Azhar Khandekar, Phuc H. Hoang, Jens Luebeck, Marcos Díaz-Gay, Wei Zhao, John P. McElderry, Caleb Hartman, Mona Miraftab, Olivia W. Lee, Kara M. Barnao, Kristine Jones, Amy Hutchinson
+21 more Belynda D. Hicks, Erik N. Bergstrom, Yang Yang, Martin A. Nowak, Nathaniel Rothman, Angela Cecilia Pesatori, Dario Consonni, Robert Homer, Marina K. Baine, Lynette Marie Sholl, Philippe Joubert, Charles Leduc, William D Travis, Soo-Ryum Yang, Qing Lan, David C. Wedge, Lixing Yang, Stephen J Chanock, Tongwu Zhang, Ludmil B. Alexandrov, Maria Teresa Landi
DOI: 10.1093/jnci/djag273
Cited by: 1
References: 32

Abstract

The role of extrachromosomal DNA (ecDNA) in lung cancer, particularly in subjects who never smoked (LCINS), remains unclear. Examination of over 1200 whole-genome-sequenced lung cancers identified ecDNA in 18.9% of patients. Recurrent amplification of MDM2 and other oncogenes via ecDNA possibly drives a LCINS subset. Tumors harboring ecDNA showed worse overall survival than tumors harboring other focal amplifications. A strong association with whole-genome doubling suggests most ecDNA reflects genomic instability in treatment-naïve lung cancer.

Fields of Study & Subjects

Cancer Genomics and Diagnostics Lung Cancer Treatments and Mutations Epigenetics and DNA Methylation

Publication details

Journal / source
JNCI Journal of the National Cancer Institute
Publisher
Oxford University Press (OUP)
Publication date
1 August 2026
Language
EN