Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes

Abstract Myelodysplastic syndrome (MDS) is an onco-hematologic disease with distinct levels of peripheral blood cytopenias, dysplasias in cell differentiation and various forms of chromosomal and cytogenomic alterations. In this study, the Chromosomal Microarray Analysis (CMA) was performed in patie...

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Autores principales:	Cristiano Luiz Ribeiro, Irene P. Pinto, Samara S. S. Pereira, Lysa B. Minasi, Fernanda de S. M. Kluthcouski, Adriano de M. Arantes, Aparecido D. da Cruz, Marcio A. A. de Almeida, Tom E. Howard, Cláudio C. da Silva
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/e08b9d9b7e66439fb08239c6877d3462
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spelling	oai:doaj.org-article:e08b9d9b7e66439fb08239c6877d34622021-12-02T14:06:19ZGenomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes10.1038/s41598-021-81467-22045-2322https://doaj.org/article/e08b9d9b7e66439fb08239c6877d34622021-02-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-81467-2https://doaj.org/toc/2045-2322Abstract Myelodysplastic syndrome (MDS) is an onco-hematologic disease with distinct levels of peripheral blood cytopenias, dysplasias in cell differentiation and various forms of chromosomal and cytogenomic alterations. In this study, the Chromosomal Microarray Analysis (CMA) was performed in patients with primary MDS without numerical and/or structural chromosomal alterations in karyotypes. A total of 17 patients was evaluated by GTG banding and eight patients showed no numerical and/or structural alterations. Then, the CMA was carried out and identified gains and losses CNVs and long continuous stretches of homozygosity (LCSHs). They were mapped on chromosomes 1, 2, 3, 4, 5, 6, 7, 9, 10, 12, 14, 16, 17, 18, 19, 20, 21, X, and Y. Ninety-one genes that have already been implicated in molecular pathways important for cell viability were selected and in-silico expression analyses demonstrated 28 genes differentially expressed in mesenchymal stromal cells of patients. Alterations in these genes may be related to the inactivation of suppressor genes or the activation of oncogenes contributing to the evolution and malignization of MDS. CMA provided additional information in patients without visible changes in the karyotype and our findings could contribute with additional information to improve the prognostic and personalized stratification for patients.Cristiano Luiz RibeiroIrene P. PintoSamara S. S. PereiraLysa B. MinasiFernanda de S. M. KluthcouskiAdriano de M. ArantesAparecido D. da CruzMarcio A. A. de AlmeidaTom E. HowardCláudio C. da SilvaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Cristiano Luiz Ribeiro Irene P. Pinto Samara S. S. Pereira Lysa B. Minasi Fernanda de S. M. Kluthcouski Adriano de M. Arantes Aparecido D. da Cruz Marcio A. A. de Almeida Tom E. Howard Cláudio C. da Silva Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes
description	Abstract Myelodysplastic syndrome (MDS) is an onco-hematologic disease with distinct levels of peripheral blood cytopenias, dysplasias in cell differentiation and various forms of chromosomal and cytogenomic alterations. In this study, the Chromosomal Microarray Analysis (CMA) was performed in patients with primary MDS without numerical and/or structural chromosomal alterations in karyotypes. A total of 17 patients was evaluated by GTG banding and eight patients showed no numerical and/or structural alterations. Then, the CMA was carried out and identified gains and losses CNVs and long continuous stretches of homozygosity (LCSHs). They were mapped on chromosomes 1, 2, 3, 4, 5, 6, 7, 9, 10, 12, 14, 16, 17, 18, 19, 20, 21, X, and Y. Ninety-one genes that have already been implicated in molecular pathways important for cell viability were selected and in-silico expression analyses demonstrated 28 genes differentially expressed in mesenchymal stromal cells of patients. Alterations in these genes may be related to the inactivation of suppressor genes or the activation of oncogenes contributing to the evolution and malignization of MDS. CMA provided additional information in patients without visible changes in the karyotype and our findings could contribute with additional information to improve the prognostic and personalized stratification for patients.
format	article
author	Cristiano Luiz Ribeiro Irene P. Pinto Samara S. S. Pereira Lysa B. Minasi Fernanda de S. M. Kluthcouski Adriano de M. Arantes Aparecido D. da Cruz Marcio A. A. de Almeida Tom E. Howard Cláudio C. da Silva
author_facet	Cristiano Luiz Ribeiro Irene P. Pinto Samara S. S. Pereira Lysa B. Minasi Fernanda de S. M. Kluthcouski Adriano de M. Arantes Aparecido D. da Cruz Marcio A. A. de Almeida Tom E. Howard Cláudio C. da Silva
author_sort	Cristiano Luiz Ribeiro
title	Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes
title_short	Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes
title_full	Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes
title_fullStr	Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes
title_full_unstemmed	Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes
title_sort	genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/e08b9d9b7e66439fb08239c6877d3462
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Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes

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