Masayuki Umeda, Jing Ma, Tamara Westover, Yonghui Ni, Guangchun Song, Jamie L Maciaszek, Michael Rusch, Delaram Rahbarinia, Scott Foy, Benjamin J Huang, Michael P Walsh, Priyadarshini Kumar, Yanling Liu, Wenjian Yang, Yiping Fan, Gang Wu, Sharyn D Baker, Xiaotu Ma, Lu Wang, Todd A Alonzo, Jeffrey E Rubnitz, Stanley Pounds, Jeffery M Klco
Recent studies on pediatric acute myeloid leukemia (pAML) have revealed pediatric-specific driver alterations, many of which are underrepresented in the current classification schemas. To comprehensively define the genomic landscape of pAML, we systematically categorized 887 pAML into 23 mutually distinct molecular categories, including new major entities such as UBTF or BCL11B, covering 91.4% of the cohort. These molecular categories were associated with unique expression profiles and mutational patterns. For instance, molecular categories characterized by specific HOXA or HOXB expression signatures showed distinct mutation patterns of RAS pathway genes, FLT3 or WT1, suggesting shared biological mechanisms...
January 11, 2024: Nature Genetics