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Genomics of pediatric myeloid neoplasms

Genomic profiling of pediatric myeloid tumors (AML, therapy-related myeloid neoplasms, MDS and others) has shown significant differences when compared adult myeloid neoplasms. This includes the recognition of pediatric-enriched entities including UBTF-TD and NUP98 rearranged leukemias. Collectively we have described over 23 unique molecular subtypes of pediatric AML with unique expression signatures, driver mutations, patterns of cooperating mutations and distinct outcomes. Some of the subtypes (KMT2A and NUP98, for example) have remarkable heterogeneity in fusions partners, cellular phenotypes and molecular signatures.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001008407 Illumina HiSeq 2000 173
EGAD00001008413 Illumina HiSeq 2000 158
EGAD00001008446 Illumina HiSeq 2000 10
EGAD00001011294 Illumina HiSeq 2000 307
EGAD00001011295 Illumina HiSeq 2000 264
EGAD00001011296 Illumina HiSeq 2000 215
Publications Citations
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Blood Cancer Discov 3: 2022 194-207
38
Etiology of oncogenic fusions in 5,190 childhood cancers and its clinical and therapeutic implication.
Nat Commun 14: 2023 1739
7
A new genomic framework to categorize pediatric acute myeloid leukemia.
Nat Genet 56: 2024 281-293
14