分层医学儿科学：游离DNA和连续肿瘤测序可识别亚型特异性癌症演变及表观遗传状态。
Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.
作者信息
George Sally L, Lynn Claire, Stankunaite Reda, Hughes Debbie, Sauer Carolin M, Chalker Jane, Waqar Ahmed Saira, Oostveen Minou, Proszek Paula Z, Yuan Lina, Shaikh Ridwan, Jamal Sabri, Brew Ama, Tall Jennifer, Rogers Tony, Clifford Steven C, Vormoor Josef, Shipley Janet M, Tweddle Deborah A, Jones Chris, Willis Courtney, Burke G A Amos, Vedi Aditi, Howell Lisa, Johnston Robert, Rees Helen, Adams Madeleine, Jesudason Angela, Ronghe Milind, Elliott Martin, Ross Emma, Makin Guy, Campbell-Hewson Quentin, Grundy Richard G, Turnbull Jennifer, Wilson Shaun, Lee Victoria, Gray Juliet C, Stoneham Sara, Gatz Susanne A, Marshall Lynley V, Angelini Paola, Anderson John, Cresswell George D, Graham Trevor A, Al-Lazikani Bissan, Cortés-Ciriano Isidro, Kearns Pamela, Hutchinson J Ciaran, Hargrave Darren, Jacques Thomas S, Hubank Michael, Sottoriva Andrea, Chesler Louis
机构信息
Paediatric Oncology Experimental Medicine Centre (POEM), The Institute of Cancer Research, London, United Kingdom.
Children and Young People's Unit, The Royal Marsden Hospital, London, United Kingdom.
出版信息
Cancer Discov. 2025 Apr 2;15(4):717-732. doi: 10.1158/2159-8290.CD-24-0916.
In tumors of childhood, we identify mutations in epigenetic genes as drivers of relapse, with matched cfDNA sequencing showing significant intratumor genetic heterogeneity and cell-state specific patterns of chromatin accessibility. This highlights the power of cfDNA analysis to identify both genetic and epigenetic drivers of aggressive disease in pediatric cancers.
在儿童肿瘤中，我们鉴定出表观遗传基因中的突变是复发的驱动因素，匹配的游离DNA测序显示出显著的肿瘤内遗传异质性和染色质可及性的细胞状态特异性模式。这凸显了游离DNA分析在识别儿童癌症侵袭性疾病的遗传和表观遗传驱动因素方面的作用。
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