Plasma levels of mitochondrial gene copy number and microRNA transcripts as effective minimally invasive biomarkers for endometrial adenocarcinoma.

e17629 Background: The development of endometrial adenocarcinoma (EA) is linked to aberrations in the mitochondrial genome. Screening for molecular markers of mitochondrial metabolism—specifically, gene copy number and microRNA transcript levels in plasma—could be valuable for developing effective minimally invasive diagnostic methods for EA. The aim of this study was to identify molecular minimally invasive differential biomarkers for EA and uterine fibroids (UF). Methods: The study included 16 patients with EA (grades G2, G3) at stage IA or IB, and 4 patients with UF. The mean age was 59.7 years. No neoadjuvant therapy was administered prior to sample collection. Ten milliliters of venous blood were collected from each patient before treatment, and plasma was isolated. The relative copy number of target genes was assessed using quantitative real-time polymerase chain reaction (RT-qPCR). Synthetic oligonucleotide primers were designed using Primer-BLAST and the GenBank database (NCBI). GAPDH and B2M were used as reference genes for normalization. Amplification was performed using a CFX96 thermal cycler (Bio-Rad, USA). MicroRNA was extracted from plasma samples using the miRNeasy Serum/Plasma Kit (Qiagen, Germany) on a Qiacube Connect automated station (Qiagen, Germany). Changes in the relative expression of microRNAs were evaluated by RT-qPCR. Statistical analysis was performed using dedicated medical research software packages. Results: Statistically significant differences were found in plasma levels of the gene copy numbers for HV2 and MT-ND1, as well as in the levels of microRNA transcripts hsa-miR-122-5p and hsa-miR-7106-5p, between patients with EA and UF. All studied parameters were lower in EA compared to UF. Specifically, plasma copy numbers of HV2 and MT-ND1 genes were 1.5-fold (p<0.005) and 1.4-fold (p<0.05) lower, respectively, in EA than in UF. Plasma levels of hsa-miR-122-5p (p<0.005) and hsa-miR-7106-5p (p<0.005) transcripts were 8.9-fold and 3.9-fold lower, respectively, in EA than in UF. Conclusions: These results elucidate certain mechanisms of mitochondrial dysfunction in EA and hold potential significance for improving the minimally invasive diagnosis of this disease.