小年 (2025-07-27 22:43):
#paper doi：10.1101/2022.09.13.507640, Nature, David T.et al. The genomic basis of childhood T-lineage acute lymphoblastic leukaemia 研究团队对 1300 多例接受统一治疗的儿童 T 系急性淋巴细胞白血病（T-ALL）患者的肿瘤及缓解样本进行全基因组、转录组测序，并结合恶性和正常 T 细胞前体的表观基因组及单细胞分析，构建了包含 15 种亚型的 T-ALL 基因组特征图谱。发现 T-ALL 中存在广泛的非编码基因组改变，例如增强子失调通过多种机制导致癌基因表达异常，部分亚型中造血干细胞发育调节基因存在显著基因组改变。团队通过整合染色质拓扑分析，揭示了非编码区域在 T-ALL 发病中的关键作用，鉴定出 “ETP 样” 白血病这一具有多样免疫表型和独特基因组特征的亚型。基因组分析显示，多种遗传改变和疾病亚型是生存和治疗失败的独立预测因素，部分亚型呈现出与预后密切相关的特定基因表达模式。该研究建立了全面的儿童 T-ALL 基因组学数据库，揭示了非编码基因组调控异常和疾病亚型异质性的核心作用，提示基于基因组特征的亚型分类和风险分层可作为潜在治疗策略优化的依据。
Nature, 2024-8-29. DOI: 10.1038/s41586-024-07807-0
The genomic basis of childhood T-lineage acute lymphoblastic leukaemia
Petri Pölönen, Danika Di Giacomo, Anna Eames Seffernick, Abdelrahman Elsayed, Shunsuke Kimura, Francesca Benini, Lindsey E. Montefiori, Brent L. Wood, Jason Xu, Changya Chen, ... >>>
Petri Pölönen, Danika Di Giacomo, Anna Eames Seffernick, Abdelrahman Elsayed, Shunsuke Kimura, Francesca Benini, Lindsey E. Montefiori, Brent L. Wood, Jason Xu, Changya Chen, Zhongshan Cheng, Haley Newman, Jason Myers, Ilaria Iacobucci, Elizabeth Li, Jonathan Sussman, Dale Hedges, Yawei Hui, Caroline Diorio, Lahari Uppuluri, David Frank, Yiping Fan, Yunchao Chang, Soheil Meshinchi, Rhonda Ries, Rawan Shraim, Alexander Li, Kathrin M. Bernt, Meenakshi Devidas, Stuart S. Winter, Kimberly P. Dunsmore, Hiroto Inaba, William L. Carroll, Nilsa C. Ramirez, Aaron H. Phillips, Richard W. Kriwacki, Jun J. Yang, Tiffaney L. Vincent, Yaqi Zhao, Pankaj S. Ghate, Jian Wang, Colleen Reilly, Xin Zhou, Mathijs A. Sanders, Junko Takita, Motohiro Kato, Nao Takasugi, Bill H. Chang, Richard D. Press, Mignon Loh, Evadnie Rampersaud, Elizabeth Raetz, Stephen P. Hunger, Kai Tan, Ti-Cheng Chang, Gang Wu, Stanley B. Pounds, Charles G. Mullighan, David T. Teachey <<<
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