The genomic landscape of pediatric myelodysplastic syndromes

Jason R. Schwartz, Jing Ma, Tamara Lamprecht, Michael Walsh, Shuoguo Wang, Victoria Bryant, Guangchun Song, Gang Wu, John Easton, Chimene Kesserwan, Kim E. Nichols, Charles G. Mullighan, Raul C. Ribeiro and Jeffery M. Klco ()
Additional contact information
Jason R. Schwartz: Department of Oncology, St. Jude Children’s Research Hospital
Jing Ma: Department of Pathology, St. Jude Children’s Research Hospital
Tamara Lamprecht: Department of Pathology, St. Jude Children’s Research Hospital
Michael Walsh: Department of Pathology, St. Jude Children’s Research Hospital
Shuoguo Wang: Department of Computational Biology, St. Jude Children’s Research Hospital
Victoria Bryant: Department of Pathology, St. Jude Children’s Research Hospital
Guangchun Song: Department of Pathology, St. Jude Children’s Research Hospital
Gang Wu: Department of Computational Biology, St. Jude Children’s Research Hospital
John Easton: Department of Computational Biology, St. Jude Children’s Research Hospital
Chimene Kesserwan: Department of Oncology, St. Jude Children’s Research Hospital
Kim E. Nichols: Department of Oncology, St. Jude Children’s Research Hospital
Charles G. Mullighan: Department of Pathology, St. Jude Children’s Research Hospital
Raul C. Ribeiro: Department of Oncology, St. Jude Children’s Research Hospital
Jeffery M. Klco: Department of Pathology, St. Jude Children’s Research Hospital

Nature Communications, 2017, vol. 8, issue 1, 1-10

Abstract: 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.

Date: 2017
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DOI: 10.1038/s41467-017-01590-5

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