Department of Thoracic Surgery and Tumors, Ludwik Rydygier Collegium Medicum, Bydgoszcz, Nicolaus Copernicus University, Torun, Poland.
Mol Diagn Ther. 2014 Jun;18(3):273-84. doi: 10.1007/s40291-013-0077-9.
Oncology indispensably leads us to personalized medicine, which allows an individual approach to be taken with each patient. Personalized oncology is based on pharmacogenomics and the effect of genetic differences in individuals (germline and somatic) on the way cancer patients respond to chemotherapeutics. Biomarkers detected using molecular biology tools allow the molecular characterization of cancer signatures and provide information relevant for personalized treatment. Biomarkers can be divided into two main subgroups: prognostic and predictive. The aim of the application of prognostic biomarkers, which provide information on the overall cancer outcome in patients, is to facilitate cancer diagnosis, usually with no need for putting invasive methods into use. Predictive biomarkers help to optimize therapy decisions, as they provide information on the likelihood of response to a given chemotherapeutic. Among the prognostic factors that identify patients with different outcome risks (e.g., recurrence of the disease), the following factors can be distinguished: somatic and germline mutations, changes in DNA methylation that lead to the enhancement or suppression of gene expression, the occurrence of elevated levels of microRNA (miRNA) capable of binding specific messenger RNA (mRNA) molecules, which affects gene expression, as well as the presence of circulating tumor cells (CTCs) in blood, which leads to a poor prognosis for the patient. Biomarkers for personalized oncology are used mainly in molecular diagnostics of chronic myeloid leukemia, colon, breast and lung cancer, and recently in melanoma. They are successfully used in the evaluation of the benefits that can be achieved through targeted therapy or in the evaluation of toxic effects of the chemotherapeutic used in the therapy.
肿瘤学不可避免地引领我们走向个性化医学,从而为每位患者采取个体化的治疗方法。个体化肿瘤学基于药物基因组学和个体(种系和体细胞)遗传差异对癌症患者对化疗药物反应的影响。使用分子生物学工具检测到的生物标志物允许对癌症特征进行分子特征描述,并提供与个体化治疗相关的信息。生物标志物可分为两个主要亚组:预后和预测。应用预后生物标志物的目的是为患者提供有关总体癌症结果的信息,以促进癌症诊断,通常无需使用侵入性方法。预测生物标志物有助于优化治疗决策,因为它们提供了对特定化疗药物反应可能性的信息。在识别具有不同预后风险(例如疾病复发)的患者的预后因素中,可以区分以下因素:种系和体细胞突变、导致基因表达增强或抑制的 DNA 甲基化变化、能够结合特定信使 RNA (mRNA) 分子的 miRNA 水平升高的发生,从而影响基因表达,以及血液中循环肿瘤细胞 (CTC) 的存在,这会导致患者预后不良。个体化肿瘤学的生物标志物主要用于慢性髓性白血病、结肠癌、乳腺癌和肺癌的分子诊断,最近也用于黑色素瘤。它们成功地用于评估靶向治疗可以带来的益处,或评估治疗中使用的化疗药物的毒性作用。