常见癌症生物标记物在分子诊断中的应用

Application of Biomarkers for Common Cancers in Molecular Diagnosis

越来越多的证据表明,基于靶标的药物仅在分子选择的患者群体中有活性。因此,预测性生物标志物的鉴定已成为改善这些新型药物的临床开发的必要条件。非小细胞肺癌中表皮生长因子受体(EGFR)的突变或ALK基因的重排以及黑素瘤中的BRAF突变是驱动突变的明显例子。预测性生物标志物还可以鉴定不太可能对特定药物有反应的患者亚组,如结肠直肠癌中的KRAS突变和抗EGFR单克隆抗体所示。新型驱动分子改变的发现和能够选择性阻断这种致癌机制的药物的可用性导致需要在每个单独患者中评估的推定生物标志物的数量的快速增加。在临床实践中引入这些技术将增加识别每个患者中的分子靶标的可能性,并且还允许在治疗期间跟踪疾病的分子进化。通过使用这些方法,最终可以为癌症患者开发个性化药物。

There is increasing evidence that target-based drugs are only active in a population of selected molecules.Therefore,the identification of predictive biomarkers has become a necessary condition for improving the clinical development of these novel drugs.Mutation of the epidermal growth factor receptor(EGFR)or rearrangement of the ALK gene and BRAF mutation in melanoma in non-small cell lung cancer are clear examples of driving mutations.Predictive biomarkers can also identify subgroups of patients who are less likely to respond to a particular drug,such as KRAS mutations in colorectal cancer and anti-EGFR monoclonal antibodies.The discovery of novel driving molecule changes and the availability of drugs capable of selectively blocking this oncogenic mechanism have led to a rapid increase in the number of putative biomarkers that need to be evaluated in each individual patient.Introducing these techniques in clinical practice will increase the likelihood of identifying molecular targets in each patient and also allow for tracking the molecular evolution of the disease during treatment.By using these methods,personalized medicines can eventually be developed for cancer patients.