Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia is Characterized by Distinct Genomic Subsets with Varying Outcomes
|Study ID||Alternative Stable ID||Type|
Acute Megakaryoblastic Leukemia (AMKL) is a subtype of acute myeloid leukemia (AML) in which cells morphologically resemble abnormal megakaryoblasts. While extremely rare in adults, AMKL accounts for 4-15% of newly diagnosed childhood AML1-3. A significant proportion of pediatric AMKL cases occur in children with Down syndrome (DS). These patients have excellent outcomes and are characterized at the genomic level by a founding GATA1 mutation4-6. In contrast, AMKL in patients without DS (non-DS-AMKL) is frequently associated with poor outcomes. Previous efforts have identified chimeric oncogenes in a significant number of cases, including RBM15-MKL1, CBFA2T3-GLIS2, KMT2A gene rearrangements and NUP98-KDM5A7-9. The etiology of 30-40% of cases, however, remains unknown. To better understand the genomic landscape of non-DS-AMKL, we performed RNA and exome sequencing on specimens from 99 patients (75 pediatric and 24 adult). We demonstrate that pediatric non-DS-AMKL is a heterogeneous malignancy that can be divided into seven subgroups with varying outcomes. These ... (Show More)
Study Datasets 2 datasets.
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DATA FILES FOR GRUBER SJAMLM7 EXOME
|Illumina HiSeq 2000||114|
DATA FILES FOR GRUBER SJAMLM7 RNASEQ
|Illumina HiSeq 2000||86|
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