Genomic landscape of Down syndrome–associated acute lymphoblastic leukemia

Zhenhua Li,Ti-Cheng Chang,Jacob J. Junco,Meenakshi Devidas,Yizhen Li,Wenjian Yang, Xin Huang,Dale J. Hedges,Zhongshan Cheng,Mary Shago,Andrew J. Carroll,Nyla A. Heerema,Julie Gastier-Foster,Brent L. Wood,Michael J. Borowitz, Lauren Sanclemente,Elizabeth A. Raetz,Stephen P. Hunger,Eleanor Feingold,Tracie C. Rosser

Blood（2023）

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摘要

•Using whole-genome sequencing and RNA-seq, we characterized the genomic landscape of 295 DS-ALL cases and identified 15 distinct subtypes.•DS-ALL exhibits marked enrichment of RAG-mediated and C/EBP gene alterations and inferior outcomes in BCR::ABL1-like CRLF2-r cases.

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