Braggio Esteban, Albarracín Garramuño Flavio
Department of Hematology and Oncology, Mayo Clinic, Scottsdale, AZ, USA.
Medicina (B Aires). 2013;73(4):369-75.
Genetic studies have a central role in the study of multiple myeloma (MM), as they become a critical component in the risk-based stratification of the disease. Significant efforts have been made to identify genetic changes and signatures that can predict clinical outcome and include them in the routine clinical care. Fluorescence in situ hybridization (FISH) still remains the most used genetic technique in clinical practice, mostly due to its very straightforward implementation and the simplicity of data analysis. The advent of high-resolution genomics (i.e. array CGH, exome and whole genome sequencing) and transcriptomics tests (i.e. gene expression profiling - GEP, and mRNA sequencing) provide a comprehensive analysis of the already defined genetic prognostic factors and are helpful tools for the identification of potential novel disease markers on the MM tumor clone. Indeed, GEP has been successfully implemented in MM as a risk-stratification tool, holding the greatest power in outcome discrimination. Nevertheless, some technical and logistic intricacies (need of a highly purified tumor clone, cost of the assay and complexity of data analysis) need to be considered before the definitive incorporation of high-throughput technologies in routine clinical tests. Until then, FISH remains the standard tool for genomic abnormality detection and disease prognostication.
基因研究在多发性骨髓瘤（MM）的研究中发挥着核心作用，因为它们已成为该疾病基于风险分层的关键组成部分。人们已做出重大努力来识别可预测临床结果的基因变化和特征，并将其纳入常规临床护理中。荧光原位杂交（FISH）在临床实践中仍然是最常用的基因技术，这主要归功于其非常直接的操作以及数据分析的简便性。高分辨率基因组学（即阵列比较基因组杂交、外显子组和全基因组测序）和转录组学检测（即基因表达谱分析 - GEP和mRNA测序）的出现，对已确定的基因预后因素进行了全面分析，并且是识别MM肿瘤克隆上潜在新疾病标志物的有用工具。事实上，GEP已作为一种风险分层工具在MM中成功应用，在区分预后方面具有最大效力。然而，在将高通量技术最终纳入常规临床检测之前，需要考虑一些技术和后勤方面的复杂问题（需要高度纯化的肿瘤克隆、检测成本以及数据分析的复杂性）。在此之前，FISH仍然是基因组异常检测和疾病预后评估的标准工具。
