Phedias Diamandis and Kenneth D. Aldape, Princess Margaret Cancer Centre; and Kenneth D. Aldape, University of Toronto, Toronto, Ontario, Canada.
J Clin Oncol. 2017 Jul 20;35(21):2386-2393. doi: 10.1200/JCO.2017.73.9516. Epub 2017 Jun 22.
The comprehensive molecular profiling of cancer has resulted in new insights into the biology and classification of numerous tumor types. In the case of primary brain tumors that commonly affect adults, an emerging set of disease-defining biomarker sets is reshaping existing diagnostic entities that had previously been defined on the basis of their microscopic appearance. Substantial progress has been made in this regard for common primary brain tumors in adults, especially diffuse gliomas, where large-scale profiling efforts have led to the incorporation of highly prevalent molecular alterations that promote a biologically based classification as an adjunct to the traditional histopathologic approach. The growing awareness that histologically indistinguishable tumors can be divided into more precise and biologically relevant subgroups has demanded a more global routine approach to biomarker assessment. These considerations have begun to intersect with the decreasing costs and availability of genome-wide analysis tools and, thus, incorporation into routine practice. We review how molecular profiling already has led to an evolution in the classification of brain tumors. In addition, we discuss the likely trajectory of incorporation of global molecular profiling platforms into the routine clinical classification of adult brain tumors.
癌症的全面分子分析使人们对许多肿瘤类型的生物学和分类有了新的认识。对于常见的成人原发性脑肿瘤,一组新兴的疾病定义生物标志物集正在重塑先前基于微观外观定义的现有诊断实体。在这方面,成人常见的原发性脑肿瘤,特别是弥漫性神经胶质瘤,已经取得了实质性进展,大规模的分析工作导致了高度普遍的分子改变,这些改变促进了基于生物学的分类,作为传统组织病理学方法的辅助手段。人们越来越意识到,组织学上无法区分的肿瘤可以进一步细分为更精确和更具生物学相关性的亚组,这就要求对生物标志物进行更全面的常规评估。这些考虑因素开始与全基因组分析工具的成本降低和可用性相交织,并因此被纳入常规实践。我们回顾了分子分析如何已经导致脑肿瘤分类的演变。此外,我们还讨论了将全球分子分析平台纳入成人脑肿瘤常规临床分类的可能轨迹。