Mitelman Felix, Johansson Bertil, Mertens Fredrik
Lund University, Department of Clinical Genetics, Lund University Hospital, SE-221 85 Lund, Sweden.
Nat Rev Cancer. 2007 Apr;7(4):233-45. doi: 10.1038/nrc2091. Epub 2007 Mar 15.
Chromosome aberrations, in particular translocations and their corresponding gene fusions, have an important role in the initial steps of tumorigenesis; at present, 358 gene fusions involving 337 different genes have been identified. An increasing number of gene fusions are being recognized as important diagnostic and prognostic parameters in malignant haematological disorders and childhood sarcomas. The biological and clinical impact of gene fusions in the more common solid tumour types has been less appreciated. However, an analysis of available data shows that gene fusions occur in all malignancies, and that they account for 20% of human cancer morbidity. With the advent of new and powerful investigative tools that enable the detection of cytogenetically cryptic rearrangements, this proportion is likely to increase substantially.
染色体畸变,尤其是易位及其相应的基因融合,在肿瘤发生的起始阶段起着重要作用;目前,已鉴定出涉及337个不同基因的358种基因融合。越来越多的基因融合被认为是恶性血液系统疾病和儿童肉瘤重要的诊断和预后参数。基因融合在更常见的实体瘤类型中的生物学和临床影响尚未得到充分认识。然而,对现有数据的分析表明,基因融合存在于所有恶性肿瘤中,且占人类癌症发病率的20%。随着能够检测细胞遗传学隐匿重排的新型强大研究工具的出现,这一比例可能会大幅增加。