1. Cell-free and extrachromosomal DNA profiling of small cell lung cancer.
- Author
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Behrouzi R, Clipson A, Simpson KL, Blackhall F, Rothwell DG, Dive C, and Mouliere F
- Subjects
- Humans, Liquid Biopsy methods, DNA Methylation, Mutation, Small Cell Lung Carcinoma genetics, Small Cell Lung Carcinoma diagnosis, Small Cell Lung Carcinoma blood, Small Cell Lung Carcinoma pathology, Lung Neoplasms genetics, Lung Neoplasms diagnosis, Lung Neoplasms blood, Lung Neoplasms pathology, Cell-Free Nucleic Acids genetics, Cell-Free Nucleic Acids blood, Biomarkers, Tumor genetics, Circulating Tumor DNA genetics, Circulating Tumor DNA blood
- 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., Competing Interests: 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., (Copyright © 2024 The Author(s). Published by Elsevier Ltd.. All rights reserved.)
- Published
- 2025
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