Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

分层医学儿科:无细胞 DNA 和连续肿瘤测序可识别亚型特异性癌症演变和表观遗传状态

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作者: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
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.

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