The Acquisition of Molecular Drivers in Pediatric Therapy-Related Myeloid Neoplasms
UID: 10753
- Description
- Summary from the European Genome-Phenome Archive: "Pediatric therapy-related myeloid neoplasms (tMN) occur in children after exposure to cytotoxic therapy and have a dismal prognosis1-4. The somatic and germline genomic alterations that drive these myeloid neoplasms in children and how they arise have yet to be comprehensively described. We use whole exome, whole genome, and/or RNA sequencing to characterize the genomic profile of 85 pediatric tMN cases (tMDS: n=29, tAML: n=56). Our data show that Ras/MAPK pathway mutations, alterations in RUNX1 or TP53, and KMT2A rearrangements are frequent somatic drivers, and we identify cases with aberrant MECOM expression secondary to enhancer hijacking. Unlike adults with tMN5-7, we find no evidence of pre-existing minor tMN clones (including those with TP53 mutations), but rather the majority of cases were unrelated clones arising as a consequence of cytotoxic therapy. These studies also uncover rare cases of lineage switch disease rather than true secondary neoplasms."
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Access via EGA
RNA Sequencing files of 56 samples, BAM of WXS files of 137 samples, and BAM of WGS files of 35 samples.
Accession #: EGAS00001004850 - Access Restrictions
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Application Required
- Access Instructions
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- Data Type
- Equipment Used
- Dataset Format(s)
- WGS, WXS, BAM
- Dataset Size
- 1,0290+
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