Kuo Frank C, Mar Brenton G, Lindsley R Coleman, Lindeman Neal I
Department of Pathology, Brigham and Women's Hospital, Boston, MA.
Dana-Farber Cancer Institute, Boston, MA.
Blood. 2017 Jul 27;130(4):433-439. doi: 10.1182/blood-2017-03-734533. Epub 2017 Jun 9.
Advances in technology that have transpired over the past 2 decades have enabled the analysis of cancer samples for genomic alterations to understand their biologic function and to translate that knowledge into clinical practice. With the power to analyze entire genomes in a clinically relevant time frame and with manageable costs comes the question of whether we ought to and when. This review focuses on the relative merits of 3 approaches to molecular diagnostics in hematologic malignancies: indication-specific single gene assays, gene panel assays that test for genes selected for their roles in cancer, and genome-wide assays that broadly analyze the tumor exomes or genomes. After addressing these in general terms, we review specific use cases in myeloid and lymphoid malignancies to highlight the utility of single gene testing and/or larger panels.
过去20年里技术的进步使得对癌症样本进行基因组改变分析成为可能，从而了解其生物学功能并将这些知识转化为临床实践。随着能够在临床相关的时间框架内以可承受的成本分析整个基因组，随之而来的问题是我们是否应该以及何时这样做。本综述重点关注血液系统恶性肿瘤分子诊断的三种方法的相对优点：针对特定适应症的单基因检测、检测因在癌症中所起作用而选择的基因的基因panel检测，以及广泛分析肿瘤外显子组或基因组的全基因组检测。在对这些方法进行总体讨论之后，我们回顾了髓系和淋巴系恶性肿瘤的具体应用案例，以突出单基因检测和/或更大基因panel的实用性。
