High-risk pediatric acute megakaryoblastic leukemia (AMKL) can be divided into 7 subgroups with varying prognoses, according to a next-generation genomic sequencing study published in Nature Genetics.1,2 

The findings “shed light on the etiology of AMKL and provide useful information for the tailoring of treatment,” the authors reported.1

“All newly identified pediatric AMKL patients without Down syndrome should be screened for these prognostic indicators at diagnosis,” explained coauthor Tanja Gruber, MD, PhD, St. Jude Children’s Research Hospital, Memphis, Tennessee.2 “The results will help identify which patients need allogenic stem cell transplants during their first remission and which do not.”

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Non-Down syndrome–associated AMKL is a poor-prognosis subtype of acute myeloid leukemia (AML). The research team performed RNA gene-expression analyses and exome DNA sequencing of leukemia cells from 75 children and 24 adults with AMKL.

Three mutant fusion genes were associated with reduced survival: CBFA2T3-GLIS2, KMT2A and NUP98-KDM5A. HOX fusion genes also characterized a subgroup representing 15% of AMKL patients. These patients and patients with GATA1 mutations had better survival than patients in the other molecular subgroups. Patients with CBFA2T3-GLIS2 and KMT2A-fusion gene-harboring AMKL had lower overall and event-free survival probabilities than those in the other subgroups, the authors reported.

AKML diagnostic screening and treatment recommendations are being revised at St. Jude Children’s Research Hospital as a result of the findings.


1. de Rooij JD, Branstetter C, Ma J, et al. Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes. Nat Genet. 2017 Jan 23. doi: 10.1038/ng.3772 [Epub ahead of print]

2. Research leads to new treatment recommendations for a high-risk pediatric leukemia [news release]. Memphis, TN: St Jude Children’s Research Hospital; January 23, 2017. https://www.eurekalert.org/pub_releases/2017-01/sjcr-rlt011917.php. Accessed February 7, 2017.