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Review
. 2025 Jan;31(1):64-78.
doi: 10.1016/j.molmed.2024.08.004. Epub 2024 Sep 4.

Cell-free and extrachromosomal DNA profiling of small cell lung cancer

Roya Behrouzi  1 , Alexandra Clipson  2 , Kathryn L Simpson  3 , Fiona Blackhall  4 , Dominic G Rothwell  2 , Caroline Dive  3 , Florent Mouliere  5
Affiliations
Free article
Review

Cell-free and extrachromosomal DNA profiling of small cell lung cancer

Roya Behrouzi et al. Trends Mol Med. 2025 Jan.
Free article

Abstract

Small cell lung cancer (SCLC) is highly aggressive with poor prognosis. Despite a relative prevalence of circulating tumour DNA (ctDNA) in SCLC, liquid biopsies are not currently implemented, unlike non-SCLC where cell-free DNA (cfDNA) mutation profiling in the blood has utility for guiding targeted therapies and assessing minimal residual disease. cfDNA methylation profiling is highly sensitive for SCLC detection and holds promise for disease monitoring and molecular subtyping; cfDNA fragmentation profiling has also demonstrated clinical potential. Extrachromosomal DNA (ecDNA), that is often observed in SCLC, promotes tumour heterogeneity and chemotherapy resistance and can be detected in blood. We discuss how these cfDNA profiling modalities can be harnessed to expand the clinical applications of liquid biopsy in SCLC.

Keywords: cell-free DNA; extrachromosomal DNA; fragmentomics; liquid biopsy; methylation; small cell lung cancer.

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Conflict of interest statement

Declaration of interests F.M. is a coinventor on patents related to fragmentomic methods. F.M has consulted for Roche Dx. C.D. receives research grants/support from AstraZeneca, Astex Pharmaceuticals, Bioven, Amgen, Carrick Therapeutics, Merck AG, Taiho Oncology, GSK, Bayer, Boehringer Ingelheim, Roche, BMS, Novartis, Celgene, Epigene Therapeutics Inc, Angle PLC, Menarini, Clearbridge Biomedics, Thermo Fisher Scientific, and Neomed Therapeutics. C.D. has received/receives honoraria/consultancy fees from Biocartis, Merck, AstraZeneca, and GRAIL. F.B. has consulted for AstraZeneca, Boehringer Ingelheim, and Amgen. The other authors declare no competing interests.

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