BACKGRAUND: Acute appendicitis is the most common surgical emergency in the pediatric population . Despite its prevalence there is no single diagnostic test and diagnosis relies on the combination of clinical, laboratory and imaging findings.
Cell free DNA ( cfDNA ) analysis is a novel technique that use the presence of released short circulating DNA particles from necrotic and apoptotic tissue in the blood by assessment of their unique methylation pattern in order to determine specific tissue injury .
OBJECTIVES: A proof of concept for the use of cfDNA as a biomarker of acute appendicitis.
METHODES: In this study plasma samples from 7 patients with acute appendicitis was compared to control for total cfDNA and for tissue specific cfDNA.
Results: Seven plasma samples of patients with appendicitis were compared to control samples.
Total cfDNA concentration among appendicitis samples (20.2-8.4 ng/ml ,average 14.3 ng/ml ) was higher than in the control group (11.1-6.4 ng/ml ,average 8.33 ng/ml). Granulocyte cfDNA level (6.5-0.6 copies*10^3/ml, average 3.2) was higher than in the control group (1.8-0.5 copies*10^3/ml, average 1.02). Dendritic cfDNA level (6.7-1.3 copies*10^3/ml, average 2.35) was higher than in the control group (1.3-0.3 copies*10^3/ml, average 0.8). All 7 plasma samples of patients with appendicitis were tested for the presence of 3 colonic biomarkers (COL1, FGF colon, FAT1) only FAT1 was found positive in one sample.
CONCLUSIONS: Preliminary results suggest that total cfDNA levels and immune system derived cfDNA levels are elevated in acute appendicitis.
Although promising, specific appendix derived cfDNA fragment is still to be found.
