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Genomic Landscape of Pediatric Myelodysplastic Syndromes

Pediatric myelodysplastic syndromes (MDS) are a rare disease and unlike their adult counterpart, very little is known about their genomic landscape. We characterized a cohort of patients from a single institution by whole exome sequencing, as well as a subset of patients by whole genome sequencing, RNA-sequencing and targeted deep sequencing. We found a spectrum of mutations, both somatic and germline, that are distinct from those observed in adult MDS. In turn, we observed mutations commonly observed in other pediatric myeloid tumors.

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
EGAD00001003155 Illumina HiSeq 2000 6
EGAD00001003156 Illumina HiSeq 2000 4
EGAD00001003781 Illumina HiSeq 2000 94
EGAD00001003782 Illumina HiSeq 2000 43
Publications Citations
Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome.
Leukemia 31: 2017 1827-1830
The genomic landscape of pediatric myelodysplastic syndromes.
Nat Commun 8: 2017 1557
Clonal dynamics of donor-derived myelodysplastic syndrome after unrelated hematopoietic cell transplantation for high-risk pediatric B-lymphoblastic leukemia.
Cold Spring Harb Mol Case Stud 4: 2018 a002980
Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.
JCI Insight 3: 2018 121086
Etiology of oncogenic fusions in 5,190 childhood cancers and its clinical and therapeutic implication.
Nat Commun 14: 2023 1739