Whole-exome sequencing identifies novel somatic alterations associated with outcomes in idiopathic multicentric Castleman disease

Whole-exome sequencing identifies novel somatic alterations associated with outcomes in idiopathic multicentric Castleman disease
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全外显子组测序鉴定出与特发性多中心卡斯尔曼病结局相关的新型体细胞改变

DOI:
10.1111/bjh.16330
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发表时间:
2020
影响因子:
6.5
通讯作者:
Wenbin Qian
Wenbin Qian
中科院分区:
医学2区
文献类型:
--
作者:
Liangshun You;Qingqing Lin;Jing Zhao;Fangjing Shi;Ken H. Young;Wenbin Qian

文献摘要

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全外显子组测序发现了与特发性多中心Castleman病预后相关的新的体细胞改变。在本研究中,对22例IMCD患者的石蜡组织进行了全外显子组测序,并分析了患者体细胞基因组变化与其预后的关系。为了明确IMCD患者的遗传特征,我们对这22例患者进行了WES检查。然而,在其他癌症中没有发现编码L261F的I NCOA4 I突变,这表明编码L261F的I NCOA4 I突变是IMCD高度特异的(图C)。[摘自文章]英国血液学杂志的版权属于Wiley-Blackwell的财产,其内容不得复制或通过电子邮件发送到多个网站或发布到列表服务器上,除非得到版权所有者的明确书面许可。但是,用户可以打印、下载或通过电子邮件发送文章供个人使用。这篇摘要可以删节。对复制品的准确性不作任何保证。用户应参考该材料的原始出版版本,以获取完整摘要。版权适用于所有摘要。
Whole-exome sequencing identifies novel somatic alterations associated with outcomes in idiopathic multicentric Castleman disease In this study, paraffin tissues from 22 patients with iMCD were subjected to whole exome sequencing (WES) and the association of the somatic genomic alterations of patients with their outcomes was analysed. Aiming to identify the genetic characteristics in iMCD patients, we performed WES in these 22 patients. However, no I NCOA4 i mutation encoding L261F was found in other cancers, suggesting that I NCOA4 i mutations encoding L261F are highly specific to iMCD (Fig C).[Extracted from the article]Copyright of British Journal of Haematology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. Copyright applies to all Abstracts.