Biomarker for Early Diagnosis and Preoperative Assessment of Pheochromocytoma/Paraganglioma, and Application thereof

摘要

A double-stranded DNA biomarker derived from exosomes is useful in early diagnosis and preoperative evaluation of pheochromocytoma and paraganglioma, and applications thereof. The biomarker is genome double-stranded DNA fragment specifically derived from exosomes in blood serum of pheochromocytoma and paraganglioma patients. The double-stranded DNA can represent variations of RET, VHL, and HIF2A with high frequency of somatic cell mutation, and metastatic phenotype-related SDHB, which are susceptibility genes of PCCs and PGLs. The circulating exosome DNA in patient's peripheral blood contains 97% of the same chromosomal point mutation information as the tumor cells from which the DNA originated. There is evidence off the existence of double-stranded DNA in the serum exosomes of PCCs and PGLs. The double-stranded DNA can be used to identify mutations in tumor cells and provide a noninvasive molecular marker for the clinical diagnosis and preoperative evaluation of PCCs and PGLs.