Manto Karin, Ustun Yilmaz Sevdican, Pala Kara Zeliha, Kara Halil, Tokat Fatma, Akyerli Cemaliye B, Uras Cihan, Muftuoglu Meltem, Özbek Ugur
Department of Genome Studies, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Atasehir, 34638 Istanbul, Turkey.
Department of Medical Biotechnology, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Atasehir, 34638 Istanbul, Turkey.
Diseases. 2025 Jun 1;13(6):175. doi: 10.3390/diseases13060175.
BACKGROUND/OBJECTIVES: Triple-negative breast cancer (TNBC) is a highly aggressive subtype with limited therapeutic options, and identifying reliable biomarkers for diagnosis and prognosis is crucial for improving patient outcomes. Mitochondrial DNA (mtDNA) copy number has been linked to an increased risk of developing various types of cancer, including breast cancer. However, there is a lack of understanding regarding how mtDNA copy number variations may influence the development and progression of TNBC.
This study investigated mtDNA copy number in TNBC tumors and corresponding normal breast tissues from 23 TNBC patients who received neoadjuvant chemotherapy. The relative mtDNA copy number was estimated using quantitative PCR for the NADH dehydrogenase subunit 1 (ND1) and subunit 5 (ND5) regions.
The results showed a significant decrease in mtDNA copy number in TNBC tumor tissues compared to corresponding normal breast tissue. However, no significant correlation was found between mtDNA content and clinical parameters such as age, tumor size, or chemotherapy response.
These results suggest that while mtDNA content decreases in TNBC tumors, it may not directly influence these clinical characteristics. Despite some inconsistencies in the literature regarding mtDNA dynamics in cancer, this study supports the potential of mtDNA as a biomarker for TNBC. Larger cohort studies are needed to further validate these results and explore the role of mtDNA in guiding personalized treatment strategies for TNBC patients.
背景/目的：三阴性乳腺癌（TNBC）是一种侵袭性很强的亚型，治疗选择有限，识别可靠的诊断和预后生物标志物对于改善患者预后至关重要。线粒体DNA（mtDNA）拷贝数与包括乳腺癌在内的多种癌症的发病风险增加有关。然而，关于mtDNA拷贝数变异如何影响TNBC的发生和发展，目前尚缺乏了解。
本研究调查了23例接受新辅助化疗的TNBC患者的TNBC肿瘤组织及相应正常乳腺组织中的mtDNA拷贝数。使用针对烟酰胺腺嘌呤二核苷酸脱氢酶亚基1（ND1）和亚基5（ND5）区域的定量PCR来估计相对mtDNA拷贝数。
结果显示，与相应的正常乳腺组织相比，TNBC肿瘤组织中的mtDNA拷贝数显著降低。然而，未发现mtDNA含量与年龄、肿瘤大小或化疗反应等临床参数之间存在显著相关性。
这些结果表明，虽然TNBC肿瘤中的mtDNA含量降低，但它可能不会直接影响这些临床特征。尽管文献中关于癌症中mtDNA动态变化存在一些不一致之处，但本研究支持mtDNA作为TNBC生物标志物的潜力。需要更大规模的队列研究来进一步验证这些结果，并探索mtDNA在指导TNBC患者个性化治疗策略中的作用。
