Zubovic, LorenaPiazza, SilvanoTebaldi, TomaCozzuto, LucaPalazzo, GiulianaSidarovich, ViktoryiaSanctis, Verónica deBertorelli, RobertoLammens, TimHofmans, MattiasMoerloose, Bárbara dePonomarenko, JuliaPigazzi, MartinaMasetti, RiccardoMecucci, CristinaBasso, GiuseppeMacchi, Paolo2020-11-132020-11-132020Zubovic L, Piazza S, Tebaldi T, Cozzuto L, Palazzo G, Sidarovich V, De Sanctis V, Bertorelli R, Lammens T, Hofmans M, De Moerloose B, Ponomarenko J, Pigazzi M, Masetti R, Mecucci C, Basso G, Macchi P. The altered transcriptome of pediatric myelodysplastic syndrome revealed by RNA sequencing. J Hematol Oncol. 2020; 13(1):135. DOI: 10.1186/s13045-020-00974-31756-8722http://hdl.handle.net/10230/45753Pediatric myelodysplastic syndrome (PMDS) is a very rare and still poorly characterized disorder. In this work, we identified novel potential targets of PMDS by determining genes with aberrant expression, which can be correlated with PMDS pathogenesis. We identified 291 differentially expressed genes (DEGs) in PMDS patients, comprising genes involved in the regulation of apoptosis and the cell cycle, ribosome biogenesis, inflammation and adaptive immunity. Ten selected DEGs were then validated, confirming the sequencing data. These DEGs will potentially represent new molecular biomarkers and therapeutic targets for PMDS.application/pdfeng© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data mainfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1186/s13045-020-00974-3Differentially expressed genesMyelodysplastic syndromePediatricsTranscriptomeinfo:eu-repo/semantics/openAccess