Authors' Affiliations: Department of Clinical Oncology, the First Affiliated Hospital, Zhengzhou University, Zhengzhou; State Key Laboratory of Oncology in Southern China, Sun Yat-Sen University Cancer Centre; Key Laboratory for Major Obstetric Disease of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou; Department of Clinical Oncology, Nanyang city first people's hospital, Henan; Department of Clinical Oncology, The University of Hong Kong, Hong Kong, China; and Cancer Science Institute of Singapore, National University of Singpaore, Singapore.
Cancer Res. 2014 Feb 1;74(3):840-51. doi: 10.1158/0008-5472.CAN-13-2545. Epub 2013 Dec 3.
Esophageal squamous cell carcinoma (ESCC), the major histologic form of esophageal cancer, is a heterogeneous tumor displaying a complex variety of genetic and epigenetic changes. Aberrant RNA editing of adenosine-to-inosine (A-to-I), as it is catalyzed by adenosine deaminases acting on RNA (ADAR), represents a common posttranscriptional modification in certain human diseases. In this study, we investigated the status and role of ADARs and altered A-to-I RNA editing in ESCC tumorigenesis. Among the three ADAR enzymes expressed in human cells, only ADAR1 was overexpressed in primary ESCC tumors. ADAR1 overexpression was due to gene amplification. Patients with ESCC with tumoral overexpression of ADAR1 displayed a poor prognosis. In vitro and in vivo functional assays established that ADAR1 functions as an oncogene during ESCC progression. Differential expression of ADAR1 resulted in altered gene-specific editing activities, as reflected by hyperediting of FLNB and AZIN1 messages in primary ESCC. Notably, the edited form of AZIN1 conferred a gain-of-function phenotype associated with aggressive tumor behavior. Our findings reveal that altered gene-specific A-to-I editing events mediated by ADAR1 drive the development of ESCC, with potential implications in diagnosis, prognosis, and treatment of this disease.
食管鳞状细胞癌 (ESCC) 是食管癌的主要组织学形式,是一种具有复杂遗传和表观遗传变化的异质性肿瘤。腺嘌呤核苷到肌苷 (A-to-I) 的异常 RNA 编辑,如由作用于 RNA 的腺苷脱氨酶 (ADAR) 催化的,代表了某些人类疾病中的一种常见的转录后修饰。在这项研究中,我们研究了 ADARs 的状态和作用以及 ESCC 肿瘤发生过程中的 A-to-I RNA 编辑改变。在人类细胞中表达的三种 ADAR 酶中,只有 ADAR1 在原发性 ESCC 肿瘤中过表达。ADAR1 的过表达归因于基因扩增。ADAR1 过表达的 ESCC 患者预后不良。体外和体内功能测定确立了 ADAR1 在 ESCC 进展过程中作为癌基因的功能。ADAR1 的差异表达导致特定基因的编辑活性改变,这反映在原发性 ESCC 中 FLNB 和 AZIN1 消息的超编辑上。值得注意的是,AZIN1 的编辑形式赋予了与侵袭性肿瘤行为相关的功能获得表型。我们的研究结果表明,ADAR1 介导的特定基因的 A-to-I 编辑事件改变导致了 ESCC 的发生,这可能对该疾病的诊断、预后和治疗具有重要意义。