engleski

Cancer cell-free DNA fragmentation profile

Tissue biopsies, while being the gold standard in oncology, haveissues which are becoming more and more apparent. Tissue biop-sies are invasive, have difficulty detecting tumor heterogeneity, and certain tumors are simply unapproachable or too risky toperform biopsies on. With the rise of molecular biologyapproaches in medicine, liquid biopsies have promised to be reli-able and minimally invasive surrogates. Cell-free DNA (cfDNA)is one of the most prominent molecules in liquid biopsies, detected in most body fluids, and reflects the characteristics of itstissue of origin. The integrity of cfDNA has been shown as can-cer biomarker, with cfDNA of tumor origin being molecules ofeither longer or shorter size in relation to cfDNA from non-cancerous cells, depending on body liquid of origin. To investi- gate the use of size profiling in cancer detection, we have ana-lyzed different body liquids of patients with testicular tumors(TT) and compared it to matched healthy controls. Patients wererecruited from KBC Sestre milosrdnice and KBC Zagreb whilehealthy controls were recruited from the general population.Body liquids were processed to produce acellular plasma, fromwhich cfDNA was extracted. Long and short LINE-1 fragmentswere quantified absolutely by qPCR and from their ratio thecfDNA integrity index (CFI) was calculated. To detect possibleconfounding factors, we have subdivided our patients by diagno-sis, and controls by fertility score. We have detected an increasein both the total amount of long fragments and CFI in TTpatients, while no difference was found in total cfDNA amounts.In addition, an increase in both was noted in men from the con- trol group with a lower fertility score. We have confirmed thepotential of CFI, as well as cfDNA size profiling for cancer diag-nostics. CFI has shown itself as a reliable molecular biomarkerof cancer, detecting TT of all types, with potential applicationsin reproductive science as well.

cell-free DNA ; fragmentation

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