The role of methylation quantification of circulating tumor DNA (ctDNA) as a diagnostic biomarker of Pheochromocytomas (PCCs) and Paragangliomas (PGLs)

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Objectives Circulating tumor DNAs (ctDNAs) are fragments of malignant tissue DNA that can simply signify the real time genetic change and epigenetic modification of a solid tumor tissue. Pheochromocytomas (PCCs) and Paragangliomas (PGLs) are malinancy of adrenal gland tissue that have the possible diagnosis by ctDNAs. In this study the methylation quanifcation of three target genes RDBP, SDHB, and SDHC in the ctDNA of PCCs/PGLs patients were measured as a diagnostic biomarker. Methods The biological samples include blood and fresh frozen tissue of twelve PCCs/PGLs patients and blood of 12 non tumoral patients as controls were recruited. Semi quantification methylation status of RDBP, SDHB, and SDHC (two CpG lslands of each gene named 1 and 2) was assesed between PCCs/PGLs patients and controls by Methylation specific-high resolution melting (MS-HRM) technique. Results Between six candidate CpG island of RDBP, SDHB, and SDHC, promoter methylation quantification of SDHC1 and RDBP2 was expressively unsimilar in PCCs/PGLs compare to the controls. SDHC1 was hypermethylated in 49.93% of PCCs/PGLs cases vs. 8.33% of control samples, p-value: 0.026, area under curve AUC = 0.757, and RDBP2 in 74.9% of PCCs/PGLs cases vs. 25.0% of control samples, p-value: 0.032, AUC = 0.750. Conclusions Our result shows that the ctDNA hypermethylation of SDHC1 and RDBP2 have role in tumorgenesis of adrenal gland and can consider for diagnosis of PCCs/PGLs.

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