Center for Human Genetics, KU Leuven, Leuven, Belgium.
Expert Rev Hematol. 2012 Aug;5(4):381-93. doi: 10.1586/ehm.12.30.
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.
自慢性髓性白血病中发现 BCR-ABL1 融合基因以来，已经发现并鉴定了许多更多源于染色体重排的融合基因。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整体肿瘤学中的作用非常重要。在慢性髓性白血病或由致癌融合激酶表达引起的相关骨髓增生性恶性肿瘤中，现在成功地使用酪氨酸激酶抑制剂来治疗这些疾病。在急性髓性白血病中，染色体重排、致癌融合基因和关键致癌驱动基因突变的存在具有重要的预后价值，并决定了治疗的选择。在这篇综述中，作者概述了各种髓性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。
