Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway;
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Cancer Genomics Proteomics. 2021 May-Jun;18(3):167-196. doi: 10.21873/cgp.20251.
A fusion gene is the physical juxtaposition of two different genes resulting in a structure consisting of the head of one gene and the tail of the other. Gene fusion is often a primary neoplasia-inducing event in leukemias, lymphomas, solid malignancies as well as benign tumors. Knowledge about fusion genes is crucial not only for our understanding of tumorigenesis, but also for the diagnosis, prognostication, and treatment of cancer. Balanced chromosomal rearrangements, in particular translocations and inversions, are the most frequent genetic events leading to the generation of fusion genes. In the present review, we summarize the existing knowledge on chromosome deletions as a mechanism for fusion gene formation. Such deletions are mostly submicroscopic and, hence, not detected by cytogenetic analyses but by array comparative genome hybridization (aCGH) and/or high throughput sequencing (HTS). They are found across the genome in a variety of neoplasias. As tumors are increasingly analyzed using aCGH and HTS, it is likely that more interstitial deletions giving rise to fusion genes will be found, significantly impacting our understanding and treatment of cancer.
融合基因是指两个不同基因的物理并列，导致形成由一个基因的头部和另一个基因的尾部组成的结构。基因融合通常是白血病、淋巴瘤、实体恶性肿瘤以及良性肿瘤中主要的致癌事件。关于融合基因的知识不仅对于我们理解肿瘤发生至关重要，而且对于癌症的诊断、预后和治疗也至关重要。平衡染色体重排，特别是易位和倒位，是导致融合基因产生的最常见的遗传事件。在本综述中，我们总结了染色体缺失作为融合基因形成机制的现有知识。这些缺失大多是亚微观的，因此不能通过细胞遗传学分析检测到，而是通过阵列比较基因组杂交（aCGH）和/或高通量测序（HTS）检测到。它们在各种肿瘤中存在于基因组的各个部位。随着越来越多的使用 aCGH 和 HTS 分析肿瘤，很可能会发现更多导致融合基因的染色体重排，这将显著影响我们对癌症的理解和治疗。
