Laboratory of Medical Genetics, Harbin Medical University, 157 Baojian Road, Harbin, 150081, Heilongjiang, China.
School of Computer Science and Technology, Harbin Institute of Technology, Harbin, 150001, Heilongjiang, China.
Mol Diagn Ther. 2018 Oct;22(5):515-522. doi: 10.1007/s40291-018-0348-6.
Extrachromosomal circular DNAs (eccDNAs) are circular DNAs that are originated from chromosomes, but are independent from chromosomal DNA. The eccDNAs are commonly found in various tissues and cell types, and in both normal and diseased conditions. Due to their highly heterogeneous origins and being widely spread in nearly all eukaryotes, the eccDNAs are believed to reflect the genome's plasticity and instability. With the assistance of next-generation sequencing, more eccDNAs have been characterized at the molecular level. Recently, eccDNAs have been reported as cell-free DNAs in the circulation system. Importantly, these circulating eccDNAs have shown some evidence with disease associations, suggesting their potential utility as a new type of biomarker for disease detection, treatment assessment and progress surveillance. However, many challenges need to be addressed before implementing the eccDNAs as a new source of genetic material for liquid biopsy.
染色体外环状 DNA(eccDNA)是起源于染色体但与染色体 DNA 无关的环状 DNA。eccDNA 通常存在于各种组织和细胞类型中,无论是在正常还是疾病状态下。由于其起源高度异质且广泛分布于几乎所有真核生物中,因此 eccDNA 被认为反映了基因组的可塑性和不稳定性。借助下一代测序技术,更多的 eccDNA 已在分子水平上得到了表征。最近,eccDNA 已被报道为循环系统中的无细胞 DNA。重要的是,这些循环 eccDNA 与疾病关联的一些证据表明,它们有可能作为疾病检测、治疗评估和进展监测的新型生物标志物。然而,在将 eccDNA 作为液体活检的新型遗传物质来源之前,还需要解决许多挑战。