线粒体DNA （mtDNA）是细胞核外重要的遗传物质，最近的研究发现线粒体基因的结构和功能缺陷与肿瘤有明显的相关性，被认为是肿瘤形成和发展的重要原因之一。mtDNA编码参与氧化磷酸化和ATP生成所需的多肽，由于其独特的生物学环境和结构特性，与核基因组相比，mtDNA更容易发生氧化损伤和突变。在多种肿瘤组织和细胞系中发现了mtDNA结构和功能的变化，肿瘤细胞mtDNA的核内整合可能是导致细胞癌变的重要因素，而突变mtDNA的检测有望成为肿瘤非侵入性诊断的有效分子标记。

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