线粒体DNA(mtDNA)是母系遗传的胞浆DNA,以高拷贝存在于细胞中。自身结构特点决定其在肿瘤中的突变率显著高于核DNA(nDNA),所以研究者们认为mtDNA的缺陷可能促进肿瘤的发生和发展。该文就近年来肿瘤中mtDNA的常见缺陷作一综述,以探讨mtDNA缺陷与肿瘤的关系,为临床诊断和治疗肿瘤提供参考。 Mitochondrial DNA (mtDNA) is maternally inherited cytoplasmic DNA, which is present in the cell in high copy. Owing to its structural characteristics, the mutation rate in tumors is significantly higher than that of nuclear DNA (nDNA), so the researchers believe that the defects of mtDNA may promote the occurrence and development of tumors. This article reviews the common defects of mtDNA in tumors in recent years to explore the relationship between mtDNA defects and tumors and provide reference for clinical diagnosis and treatment of tumors.