Nicola Ferrari, Director of Translational Science Lead for Respiratory and Immunology at AstraZeneca, shared a post on LinkedIn:
“Cell-free DNA fragmentation signatures link cancer and autoimmunity
– The analysis of fragmentation patterns in circulating cell-free DNA (cfDNA), called fragmentomics, has emerged as a promising approach for the evaluation of liquid biopsies.
– In healthy individuals, cfDNA fragmentation patterns have a characteristic pattern that includes a length distribution consistent with the wrapping of DNA around nucleosomes.
– Individuals with cancer frequently have alterations to their cfDNA fragmentation patterns and multiple case-controlled, retrospective studies have demonstrated the potential of fragmentomics for multicancer earlier detection (MCED) and minimal residual disease monitoring.
– The authors found that individuals with venous thromboembolism, systemic lupus erythematosus, dermatomyositis, or scleroderma have cfDNA fragmentation signatures that closely resemble those found in individuals with advanced cancers. Furthermore, these signatures were highly correlated with increases in inflammatory markers in the blood.
– As a future opportunity, circulating DNA fragmentation patterns could enable earlier diagnosis of autoimmune and vascular diseases, monitor treatment response, differentiate between autoimmune indications, and delineate distinct disease subtypes.
– As a limitation of this study, the current sample size for some disease groups (e.g., SLE, n = 21) was small and future studies should be carried out in larger cohorts to document reproducibility.”
Title: Fragmentation signatures in cancer patients resemble those of patients with vascular or autoimmune diseases
Authors: Samuel D. Curtis, Tingshan Liu, Yuxin Bai, Yuxuan Wang, Sambit Panda, Adam Li, Haoyin Xu, Eliza O’Reilly, Lisa Dobbyn, Maria Popoli, Janine Ptak, Natalie Silliman, Chris Thoburn, Jeanne Tie, Peter Gibbs, Lan T. Ho-Pham, Bich N. H. Tran, Thach S. Tran, Tuan V. Nguyen, Maximilian F. Konig, Michelle Petri, Antony Rosen, Christopher A. Mecoli, Ami A. Shah, Frits Mulder, Nick van Es, PLATO-VTE Study Group, Chetan Bettegowda, Kenneth W. Kinzler, Nickolas Papadopoulos, Joshua T. Vogelstein, Bert Vogelstein, Christopher Douville
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