Somatic genomic variants in refractory cytopenia of childhood

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dc.TypeArticlept_BR
dc.contributor.authorCoutinho, Diego Ferreira
dc.contributor.authorBoroni, Mariana
dc.contributor.authorBatalha, Anna Beatriz W.
dc.contributor.authorVianna, Danielle Tavares
dc.contributor.authorKalonji, Mayara
dc.contributor.authorBueno, Ana Paula S.
dc.contributor.authorRouxinol, Soraia
dc.contributor.authorFernandez, Teresa de Souza
dc.contributor.authorMello, Fabiana V. de
dc.contributor.authorCosta, Elaine Sobral da
dc.contributor.authorAbdelhay, Eliana Saul Furquim Werneck
dc.contributor.authorMonte-Mór, Bárbara da Costa Reis
dc.contributor.authorRenault, Ilana Zalcberg
dc.date.accessioned2022-03-23T14:39:31Z
dc.date.available2022-03-23T14:39:31Z
dc.date.issued2021-06
dc.description.abstractDespite all knowledge acquired regarding the mutational profile of pediatric myelodysplastic syndrome (MDS), the somatic genomic landscape underlying that disease remains unclear. We evaluated the presence of somatic variants in 37 genes related to myeloid malignancies through targeted NGS in 20 Brazilian patients with refractory cytopenia of childhood (RCC). Only 15% (3/20) of patients showed at least one somatic driver mutation – all in genes coding to regulators of cell signaling (TP53 and CBLB) or epigenetics (ASXL1 and DNMT3A). Interestingly, those variants were identified in patients with no detected clonal chromosomal abnormalities.en
dc.identifier.issn2468-1245
dc.identifier.other10.1016/j.phoj.2021.04.180
dc.identifier.urihttp://sr-vmlxaph03:8080/jspui/handle/123456789/5940
dc.publisherPediatric Hematology Oncology Journalpt_BR
dc.subjectMyelodysplastic Syndromespt_BR
dc.subjectGenomicspt_BR
dc.subjectMutationpt_BR
dc.subject.otherSomaticen
dc.titleSomatic genomic variants in refractory cytopenia of childhoodpt_BR

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