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

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

Authors Fatemeh Khatami, Leonardo Oliveira Reis, Mehdi Ebrahimi, Shirzad Nasiri, Seyed Mohammad Tavangar, Mahin Ahmadi Pishkuhi, Gita Shafiee, Ramin Heshmat, Seyed Mohammad Kazem Aghamir Publication date 2024/7/20

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 RDBPSDHB, 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 RDBPSDHB, 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 …

https://link.springer.com/article/10.1007/s40200-024-01466-8