导论章:精确与创新时代的血液学

G. Balatzenko, M. Guenova
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引用次数: 2

摘要

在过去的二十年中,血液疾病已经通过经典的实验室方法,如显微镜,免疫表型,临床化学,遗传诊断测试,如传统的细胞遗传学,荧光原位杂交(FISH)和聚合酶链反应(PCR),以及高通量技术,包括基于微阵列的平台,用于DNA改变的全球分析(单核苷酸多态性(SNP);基因表达谱(GEP)、下一代测序(NGS)、数字化成像等。这些技术的系统应用已经允许细化参与造血干细胞/祖细胞病理转化和许多血液系统疾病进展的分子机制。更重要的是,它们允许对不同实体进行更精确和可重复的诊断,对患者进行风险分层,并使用量身定制的治疗策略以最合适的方式进行治疗。
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Introductory Chapter: Hematology in Times of Precision and Innovation
During the past two decades, hematological disorders have been extensively studied by means of classical laboratory approaches, for example, microscopy, immunophenotyping, clinical chemistry, genetic diagnostic tests such as conventional cytogenetics, fluorescence in situ hybridization (FISH), and polymerase chain reaction (PCR), as well as by high-throughput technologies, including microarray-based platforms for the global analysis of DNA alterations (single nucleotide polymorphism (SNP); array, comparative genomic hybridization (CGH)), gene expression profiling (GEP), next-generation sequencing (NGS), digitalized imaging, and so on. Systemic application of these techniques has allowed for the refinement of the molecular mechanisms involved in the pathological transformation of hematopoietic stem/progenitor cells and disease progression in a number of hematological disorders. More importantly, they have permitted more precise and reproducible diagnoses of the different entities, risk stratification of patients, and treating them in the most appropriate manner with tailored therapeutic strategies.
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