中国儿童非唐氏综合征急性巨核细胞白血病临床相关基因组图谱

IF 13.4 1区 医学 Q1 HEMATOLOGY
Kefei Wu, Hui Liu, Wenting Hu, Yuhan Liu, Wenyan Wu, Bowen Cui, Han Wang, Shuang Zhao, Yanjing Tang, Jiaoyang Cai, Yong Wang, Xiang Wang, Xiaoxiao Chen, Yixiao Mo, Ting Liu, Yangyang Xie, Huiying Sun, Ying Zhong, Jianan Rao, Rongrong Fan, Ying Wang, Changcheng Chen, Zhuo Wang, Ronghua Wang, Yuanlu Huang, Qiaoqiao Shi, Lan Wang, Jing Chen, Jing Chen, Benshang Li, Xiaolong Chen, Yu Liu, Shuhong Shen
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引用次数: 0

摘要

急性巨核母细胞白血病(AMKL)占新诊断的儿童急性髓性白血病(AML)[1]的4%-15%。儿童AMKL包含两种主要亚型:与唐氏综合征相关的AMKL (DS-AMKL)和独立于唐氏综合征发生的AMKL(非DS-AMKL)。与主要由21三体和GATA1突变驱动的DS-AMKL不同,非DS-AMKL具有更大的基因组异质性和更差的临床结果[2,3]。新一代测序研究已经确定了非ds - amkl的关键致癌驱动因素,包括RBM15::MKL1、CBFA2T3::GLIS2、NUP98::KDM5A和KMT2A重排[4,5,6]。尽管如此,20%的非ds - amkl病例的遗传基础仍然未知,这对推进精准医学和开发有效的靶向治疗提出了重大挑战。我们对中国儿童非ds - amkl进行了全面的转录组学分析。我们于2009年11月至2022年10月在上海儿童医疗中心(SCMC)招募了117例非ds - amkl患者(补充表1)。中国儿童非ds - amkl病例的临床特征与非amkl儿童AML病例非常相似(补充表2)[7],但中位年龄明显较年轻(1.3 vs. 6.5岁,p < 0.001, Fisher精确检验)。对来自该队列的58个诊断样本进行转录组测序(RNA-seq),并与我们之前发表的RNA-seq图谱整合。最后,我们分析了100例儿童非ds - amkl病例的转录组学数据(补充表3)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Clinically associated genomic landscape of pediatric non-Down Syndrome acute megakaryoblastic leukemia in Chinese patients

Clinically associated genomic landscape of pediatric non-Down Syndrome acute megakaryoblastic leukemia in Chinese patients

Clinically associated genomic landscape of pediatric non-Down Syndrome acute megakaryoblastic leukemia in Chinese patients
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来源期刊
Leukemia
Leukemia 医学-血液学
CiteScore
18.10
自引率
3.50%
发文量
270
审稿时长
3-6 weeks
期刊介绍: Title: Leukemia Journal Overview: Publishes high-quality, peer-reviewed research Covers all aspects of research and treatment of leukemia and allied diseases Includes studies of normal hemopoiesis due to comparative relevance Topics of Interest: Oncogenes Growth factors Stem cells Leukemia genomics Cell cycle Signal transduction Molecular targets for therapy And more Content Types: Original research articles Reviews Letters Correspondence Comments elaborating on significant advances and covering topical issues
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