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Abstract：
Glioblastoma, a highly aggressive brain tumor, poses significant treatment challenges. A deeper investigation into its molecular complexity is essential for the identification of novel prognostic biomarkers and therapeutic strategies, potentially improving patient outcomes in terms of survival and quality of life. While nuclear DNA mutations have been extensively studied, the role of mitochondrial DNA (mtDNA) mutations, specifically in the D-loop region, remains poorly understood. This prospective case-control study aimed to assess the prognostic significance of the mtDNA D-loop m.16126T>C variant in glioblastoma patients. Immunohistochemistry and droplet digital PCR (ddPCR) were employed for mutation analysis, complemented by statistical analyses and a literature review. The study cohort comprised 22 glioblastoma patients (mean age 59.36 ± 14.17, 12 (54.55%) females), and 25 controls (59.48 ± 13.22, 12 (80%) females). The D-loop m.16126T>C variant was observed in four (18%) of the glioblastoma samples and was associated with shorter median survival (9.5 vs. 18 months; p = 0.016, log-rank test). This study underscores the importance of investigating mtDNA, especially D-loop variants, in glioblastoma, suggesting its potential as a prognostic biomarker and, therefore, its possible therapeutic targets, warranting further exploration.
摘要：
胶质母细胞瘤,一种高度侵袭性的脑肿瘤,带来了重大的治疗挑战。对其分子复杂性的深入研究对于识别新的预后生物标志物和治疗策略至关重要。在生存率和生活质量方面可能会改善患者的预后。虽然核DNA突变已被广泛研究，线粒体DNA（mtDNA）突变的作用，特别是在D环区域，仍然知之甚少。这项前瞻性病例对照研究旨在评估mtDNAD-loopm.16126T>C变体在胶质母细胞瘤患者中的预后意义。免疫组织化学和液滴数字PCR（ddPCR）用于突变分析，辅以统计分析和文献综述。研究队列包括22例胶质母细胞瘤患者（平均年龄59.36±14.17，12例（54.55％）女性），和25个对照组（59.48±13.22，女性12（80％））。在四个（18％）胶质母细胞瘤样本中观察到D-loopm.16126T>C变体，并且与较短的中位生存期（9.5vs.18个月；p=0.016，对数秩检验)。这项研究强调了研究mtDNA的重要性，尤其是D-loop变体,在胶质母细胞瘤中，表明其作为预后生物标志物的潜力，因此,它可能的治疗目标，值得进一步探索。
