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急性白血病的基因组特征

Genomic characterization of acute leukemias.

作者信息

Chiaretti Sabina, Gianfelici Valentina, Ceglie Giulia, Foà Robin

机构信息

Division of Hematology, Department of Cellular Biotechnologies and Hematology, Sapienza University of Rome, Rome, Italy.

出版信息

Med Princ Pract. 2014;23(6):487-506. doi: 10.1159/000362793. Epub 2014 Jun 20.

Abstract

Over the past two decades, hematologic malignancies have been extensively evaluated due to the introduction of powerful technologies, such as conventional karyotyping, FISH analysis, gene and microRNA expression profiling, array comparative genomic hybridization and SNP arrays, and next-generation sequencing (including whole-exome sequencing and RNA-seq). These analyses have allowed for the refinement of the mechanisms underlying the leukemic transformation in several oncohematologic disorders and, more importantly, they have permitted the definition of novel prognostic algorithms aimed at stratifying patients at the onset of disease and, consequently, treating them in the most appropriate manner. Furthermore, the identification of specific molecular markers is opening the door to targeted and personalized medicine. The most important findings on novel acquisitions in the context of acute lymphoblastic leukemia of both B and T lineage and de novo acute myeloid leukemia are described in this review.

摘要

在过去二十年中,由于强大技术的引入,血液系统恶性肿瘤得到了广泛评估,这些技术包括传统核型分析、荧光原位杂交(FISH)分析、基因和微小RNA表达谱分析、阵列比较基因组杂交和单核苷酸多态性(SNP)阵列,以及下一代测序(包括全外显子组测序和RNA测序)。这些分析有助于完善几种血液肿瘤疾病中白血病转化的潜在机制,更重要的是,它们使得能够定义新的预后算法,旨在在疾病初发时对患者进行分层,从而以最恰当的方式对其进行治疗。此外,特定分子标志物的识别为靶向和个性化医学打开了大门。本综述描述了在B系和T系急性淋巴细胞白血病以及原发性急性髓系白血病背景下新发现的最重要成果。

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