Chromosomal aberrations and fusion genes in myeloid malignancies

Chromosomal aberrations and fusion genes in myeloid malignancies
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骨髓恶性肿瘤中的染色体畸变和融合基因

DOI:
10.1586/ehm.12.30
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发表时间:
2012
影响因子:
2.8
通讯作者:
J. Cools
J. Cools
中科院分区:
医学4区
文献类型:
--
作者:
V. Gianfelici;I. Lahortiga;J. Cools

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自从在慢性粒细胞白血病中发现 BCR-ABL1 融合基因以来,更多由染色体重排产生的融合基因已被鉴定和表征。这些融合基因的研究对于我们理解染色体重排在白血病发生和一般肿瘤学中的作用极其重要。在慢性粒细胞白血病或由致癌融合激酶表达引起的相关骨髓增殖性恶性肿瘤中,酪氨酸激酶抑制剂现已成功用于治疗这些疾病。在急性髓系白血病中,关键致癌驱动因素中染色体重排、致癌融合基因和点突变的存在具有重要的预后价值,并决定治疗的选择。在这篇综述中,作者概述了各种骨髓恶性肿瘤中存在的重要融合基因及其对临床实践的重要性。
Since the discovery of the BCR–ABL1 fusion gene in chronic myeloid leukemia, many more fusion genes resulting from chromosomal rearrangements have been identified and characterized. The study of these fusion genes has been extremely important for our understanding of the role of chromosomal rearrangements in leukemogenesis and in oncology in general. In chronic myeloid leukemia, or related myeloproliferative malignancies caused by the expression of oncogenic fusion kinases, tyrosine kinase inhibitors are now successfully used to treat these diseases. In acute myeloid leukemias, the presence of chromosomal rearrangements, oncogenic fusion genes and point mutations in key oncogenic drivers has important prognostic value and determines the choice of therapy. In this review, the authors provide an overview of the important fusion genes present in various myeloid malignancies and their importance for clinical practice.
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