作者
Shunsuke Kimura, Lindsey Montefiori, Ilaria Iacobucci, Yaqi Zhao, Qingsong Gao, Elisabeth M Paietta, Claudia Haferlach, A Douglas Laird, Paul E Mead, Zhaohui Gu, Wendy Stock, Mark Litzow, Jacob M Rowe, Selina M Luger, Stephen P Hunger, Georgina L Ryland, Breon Schmidt, Paul G Ekert, Alicia Oshlack, Sean M Grimmond, Jacqueline Rehn, James Breen, David Yeung, Deborah L White, Ibrahim Aldoss, Elias J Jabbour, Ching-Hon Pui, Manja Meggendorfer, Wencke Walter, Wolfgang Kern, Torsten Haferlach, Samuel Brady, Jinghui Zhang, Kathryn G Roberts, Piers Blombery, Charles G Mullighan
发表日期
2022/6/16
期刊
Blood, The Journal of the American Society of Hematology
卷号
139
期号
24
页码范围
3519-3531
出版商
American Society of Hematology
简介
Transcriptome sequencing has identified multiple subtypes of B-progenitor acute lymphoblastic leukemia (B-ALL) of prognostic significance, but a minority of cases lack a known genetic driver. Here, we used integrated whole-genome (WGS) and -transcriptome sequencing (RNA-seq), enhancer mapping, and chromatin topology analysis to identify previously unrecognized genomic drivers in B-ALL. Newly diagnosed (n = 3221) and relapsed (n = 177) B-ALL cases with tumor RNA-seq were studied. WGS was performed to detect mutations, structural variants, and copy number alterations. Integrated analysis of histone 3 lysine 27 acetylation and chromatin looping was performed using HiChIP. We identified a subset of 17 newly diagnosed and 5 relapsed B-ALL cases with a distinct gene expression profile and 2 universal and unique genomic alterations resulting from aberrant recombination-activating gene …
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S Kimura, L Montefiori, I Iacobucci, Y Zhao, Q Gao… - Blood, The Journal of the American Society of …, 2022