Abstract:
:Myelodysplastic syndromes (MDS) are uncommon in children and have a poor prognosis. In contrast to adult MDS, little is known about the genomic landscape of pediatric MDS. Here, we describe the somatic and germline changes of pediatric MDS using whole exome sequencing, targeted amplicon sequencing, and/or RNA-sequencing of 46 pediatric primary MDS patients. Our data show that, in contrast to adult MDS, Ras/MAPK pathway mutations are common in pediatric MDS (45% of primary cohort), while mutations in RNA splicing genes are rare (2% of primary cohort). Surprisingly, germline variants in SAMD9 or SAMD9L were present in 17% of primary MDS patients, and these variants were routinely lost in the tumor cells by chromosomal deletions (e.g., monosomy 7) or copy number neutral loss of heterozygosity (CN-LOH). Our data confirm that adult and pediatric MDS are separate diseases with disparate mechanisms, and that SAMD9/SAMD9L mutations represent a new class of MDS predisposition.
journal_name
Nat Communjournal_title
Nature communicationsauthors
Schwartz JR,Ma J,Lamprecht T,Walsh M,Wang S,Bryant V,Song G,Wu G,Easton J,Kesserwan C,Nichols KE,Mullighan CG,Ribeiro RC,Klco JMdoi
10.1038/s41467-017-01590-5subject
Has Abstractpub_date
2017-11-16 00:00:00pages
1557issue
1issn
2041-1723pii
10.1038/s41467-017-01590-5journal_volume
8pub_type
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