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转录组测序用于检测癌症中的基因融合。

Transcriptome sequencing to detect gene fusions in cancer.

作者信息

Maher Christopher A, Kumar-Sinha Chandan, Cao Xuhong, Kalyana-Sundaram Shanker, Han Bo, Jing Xiaojun, Sam Lee, Barrette Terrence, Palanisamy Nallasivam, Chinnaiyan Arul M

机构信息

Michigan Center for Translational Pathology, Ann Arbor, USA.

出版信息

Nature. 2009 Mar 5;458(7234):97-101. doi: 10.1038/nature07638. Epub 2009 Jan 11.

Abstract

Recurrent gene fusions, typically associated with haematological malignancies and rare bone and soft-tissue tumours, have recently been described in common solid tumours. Here we use an integrative analysis of high-throughput long- and short-read transcriptome sequencing of cancer cells to discover novel gene fusions. As a proof of concept, we successfully used integrative transcriptome sequencing to 're-discover' the BCR-ABL1 (ref. 10) gene fusion in a chronic myelogenous leukaemia cell line and the TMPRSS2-ERG gene fusion in a prostate cancer cell line and tissues. Additionally, we nominated, and experimentally validated, novel gene fusions resulting in chimaeric transcripts in cancer cell lines and tumours. Taken together, this study establishes a robust pipeline for the discovery of novel gene chimaeras using high-throughput sequencing, opening up an important class of cancer-related mutations for comprehensive characterization.

摘要

复发性基因融合通常与血液系统恶性肿瘤以及罕见的骨和软组织肿瘤相关,最近在常见实体瘤中也有报道。在此,我们对癌细胞的高通量长读长和短读长转录组测序进行综合分析,以发现新的基因融合。作为概念验证,我们成功地利用综合转录组测序在慢性粒细胞白血病细胞系中“重新发现”了BCR-ABL1(参考文献10)基因融合,以及在前列腺癌细胞系和组织中发现了TMPRSS2-ERG基因融合。此外,我们鉴定并通过实验验证了在癌细胞系和肿瘤中产生嵌合转录本的新基因融合。综上所述,本研究建立了一个利用高通量测序发现新基因嵌合体的强大流程,为全面表征一类重要的癌症相关突变开辟了道路。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b1cc/2725402/51bff57d48d3/nihms103039f1.jpg

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