Divisions of Pathology, CRO IRCCS National Cancer Institute, Aviano (PN), Italy.
Biobank, CRO IRCCS National Cancer Institute, Aviano (PN), Italy.
Curr Cancer Drug Targets. 2018;18(5):410-420. doi: 10.2174/1568009618666171129145703.
The effectiveness of new personalized treatment procedures in oncology is based on the fact that certain tumors exhibit specific molecular features. More in detail, neoplastic tissues of patients should display a specific biomarker, most often a specific genetic alteration and/or under/overexpression of a definite protein, that could be the target of its respective drug. Immunohistochemical and molecular analyses, which usually include examination of nucleic acids from either tissues or fluids, are common tests to define the status of a tumor. This review focuses on the pathologist's role in carefully controlling pre- analytic procedures and standard operating procedures that are a crucial prerequisite to reach reliable and reproducible results. Six paradigmatic applications of targeted therapy, for which pathological diagnosis plays a fundamental role, are summarized. Traditional and next-generation sequencing are also addressed from the pathologist's perspective as well as the importance pathologists have in this shift to more accurate definition of disease risk and prognostication of therapy response in the personalized medicine era.
新的个性化肿瘤治疗方法的有效性基于这样一个事实,即某些肿瘤表现出特定的分子特征。更具体地说,患者的肿瘤组织应该显示出特定的生物标志物,通常是特定的基因改变和/或特定蛋白质的过表达或低表达,这些标志物可以成为相应药物的靶点。免疫组织化学和分子分析通常包括对组织或体液中的核酸进行检查,是用于确定肿瘤状态的常见测试。这篇综述重点介绍了病理学家在仔细控制分析前程序和标准操作程序方面的作用,这些程序是获得可靠和可重复结果的关键前提。总结了靶向治疗的六种典型应用,其中病理诊断起着至关重要的作用。还从病理学家的角度介绍了传统和下一代测序,以及病理学家在这一转变中的重要性,这一转变是为了在个性化医疗时代更准确地定义疾病风险和预测治疗反应。