Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
Department of Clinical Genetics and Pathology, Division of Laboratory Medicine, Lund, Sweden.
Genes Chromosomes Cancer. 2019 Sep;58(9):607-611. doi: 10.1002/gcc.22745. Epub 2019 Mar 18.
Cancer-associated gene fusions resulting in chimeric proteins or aberrant expression of one or both partner genes are pathogenetically and clinically important in several hematologic malignancies and solid tumors. Since the advent of different types of massively parallel sequencing (MPS), the number of identified gene fusions has increased dramatically, prompting the question whether they all have a biologic impact. By ascertaining the chromosomal locations of 8934 genes involved in 10 861 gene fusions reported in the literature, we here show that there is a highly significant association between gene content of chromosomes and chromosome bands and number of genes involved in fusions. This strongly suggests that a clear majority of gene fusions detected by MPS are stochastic events associated with the number of genes available to participate in fusions and that most reported gene fusions are passengers without any pathogenetic importance.
在几种血液系统恶性肿瘤和实体肿瘤中,导致嵌合蛋白产生或一个或两个伴侣基因异常表达的癌基因融合具有重要的病理和临床意义。自从不同类型的大规模平行测序(MPS)出现以来,已鉴定出的基因融合数量显著增加,这促使人们产生了这样一个问题,即它们是否都具有生物学影响。通过确定文献中报道的 10861 个基因融合中涉及的 8934 个基因的染色体位置,我们在此表明,染色体和染色体带的基因含量与参与融合的基因数量之间存在高度显著的关联。这强烈表明,通过 MPS 检测到的大多数基因融合是与参与融合的基因数量相关的随机事件,并且大多数报道的基因融合是没有任何病理重要性的乘客。