Bukłaho Patrycja Aleksandra, Kiśluk Joanna, Nikliński Jacek
Department of Clinical Molecular Biology, Medical University of Bialystok, Bialystok, Poland.
Doctoral School, Medical University of Bialystok, Bialystok, Poland.
Front Oncol. 2023 Sep 6;13:1227657. doi: 10.3389/fonc.2023.1227657. eCollection 2023.
Due to predictions of increasing incidences and deaths from ovarian cancer, this neoplasm is a challenge for modern health care. The advent of NGS technology has made it possible to understand the molecular characteristics of many cancers, including ovarian cancer. The data obtained in research became the basis for the development of molecularly targeted therapies thus leading to the entry of NGS analysis into the diagnostic process of oncological patients. This review presents targeted therapies currently in preclinical or clinical trials, whose promising results offer hope for their use in clinical practice in the future. As more therapeutic options emerge, it will be necessary to modify molecular diagnostic regimens to select the best treatment for a given patient. New biomarkers are needed to predict the success of planned therapy. An important aspect of public health is molecular testing in women with a familial predisposition to ovarian cancer enabling patients to be included in prevention programs. NGS technology, despite its high throughput, poses many challenges, from the quality of the diagnostic material used for testing to the interpretation of results and classification of sequence variants. The article highlights the role of molecular testing in ongoing research and also its role in the diagnostic and therapeutic process in the era of personalized medicine. The spread of genetic testing in high-risk groups, the introduction of more targeted therapies and also the possibility of agnostic therapies could significantly improve the health situation for many women worldwide.
由于预测卵巢癌的发病率和死亡率将会上升，这种肿瘤成为现代医疗保健面临的一项挑战。二代测序（NGS）技术的出现使了解包括卵巢癌在内的多种癌症的分子特征成为可能。研究中获得的数据成为分子靶向治疗发展的基础，从而导致NGS分析进入肿瘤患者的诊断过程。本综述介绍了目前处于临床前或临床试验阶段的靶向治疗，其令人鼓舞的结果为未来在临床实践中的应用带来了希望。随着更多治疗选择的出现，有必要调整分子诊断方案，以便为特定患者选择最佳治疗方法。需要新的生物标志物来预测计划治疗的成功率。公共卫生的一个重要方面是对有卵巢癌家族易感性的女性进行分子检测，使患者能够纳入预防计划。NGS技术尽管通量很高，但从用于检测的诊断材料质量到结果解释和序列变异分类，都带来了许多挑战。本文强调了分子检测在当前研究中的作用，以及它在个性化医疗时代的诊断和治疗过程中的作用。基因检测在高危人群中的普及、更多靶向治疗的引入以及无差别治疗的可能性，可能会显著改善全球许多女性的健康状况。
