Extracellular vesicles (EVs), with exosomes at the forefront, are key in transferring cellular information and assorted biological materials, including nucleic acids. While exosomal RNA has been thoroughly examined, exploration into exosomal DNA (exoDNA)—which is stable and promising for cancer diagnostics—lags behind. This hybrid genetic material, combining contributions from both nuclear and mitochondrial DNA (mtDNA), is rooted in the cytoplasm. The enigmatic process concerning its cytoplasmic encapsulation continues to captivate researchers. Covering the entire genetic landscape, exoDNA encases significant oncogenic alterations in genes like TP53, ALK, and IDH1, which is vital for clinical assessment. This review delves into exosomal origins, the ins and outs of DNA encapsulation, and exoDNA’s link to tumor biology, underscoring its superiority to circulating tumor DNA in the biomarker arena for both detection and therapy. Amidst scientific progress, there are complexities in the comprehension and practical application of the exoDNA surface. Reflecting on these nuances, we chart the prospective research terrain and potential pitfalls, forging a path for future inquiry. By illuminating both the known and unknown facets of exoDNA, the objective of this review is to provide guidance to the field of liquid biopsy (LB) while minimizing the occurrence of avoidable blind spots and detours.
细胞外囊泡（EVs）——尤其是外泌体——在传递细胞信息及包括核酸在内的多种生物物质中扮演关键角色。尽管外泌体RNA已得到深入研究，但对外泌体DNA（exoDNA）的探索仍相对滞后。这种由核DNA与线粒体DNA（mtDNA）共同构成的混合遗传物质源于细胞质，其进入囊泡的胞质封装机制至今仍是未解之谜，持续吸引着研究者的关注。外泌体DNA涵盖完整的基因组信息，其中包含TP53、ALK、IDH1等重要基因的致癌突变，这对临床评估至关重要。本综述深入探讨外泌体的起源、DNA封装的具体机制、外泌体DNA与肿瘤生物学的关联，并强调其在生物标志物领域相较于循环肿瘤DNA在检测与治疗方面的优势。随着科学进展，外泌体DNA表面的复杂特性在认知与实际应用中仍存在挑战。基于对这些细微差别的思考，我们勾勒出未来的研究前景与潜在风险，为后续探索指明方向。通过阐明外泌体DNA已知与未知的层面，本综述旨在为液体活检领域提供指引，同时尽可能减少可避免的研究盲区与弯路。
Exosomal DNA: Role in Reflecting Tumor Genetic Heterogeneity, Diagnosis, and Disease Monitoring
肿瘤(癌症)患者之家