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Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes
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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7854738/ https://www.ncbi.nlm.nih.gov/pubmed/33531543 http://dx.doi.org/10.1038/s41598-021-81467-2 |
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author | Ribeiro, Cristiano Luiz Pinto, Irene P. Pereira, Samara S. S. Minasi, Lysa B. de S. M. Kluthcouski, Fernanda de M. Arantes, Adriano da Cruz, Aparecido D. de Almeida, Marcio A. A. Howard, Tom E. da Silva, Cláudio C. |
author_facet | Ribeiro, Cristiano Luiz Pinto, Irene P. Pereira, Samara S. S. Minasi, Lysa B. de S. M. Kluthcouski, Fernanda de M. Arantes, Adriano da Cruz, Aparecido D. de Almeida, Marcio A. A. Howard, Tom E. da Silva, Cláudio C. |
author_sort | Ribeiro, Cristiano Luiz |
collection | PubMed |
description | 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 | Online Article Text |
id | pubmed-7854738 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-78547382021-02-04 Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes Ribeiro, Cristiano Luiz Pinto, Irene P. Pereira, Samara S. S. Minasi, Lysa B. de S. M. Kluthcouski, Fernanda de M. Arantes, Adriano da Cruz, Aparecido D. de Almeida, Marcio A. A. Howard, Tom E. da Silva, Cláudio C. Sci Rep Article 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. Nature Publishing Group UK 2021-02-02 /pmc/articles/PMC7854738/ /pubmed/33531543 http://dx.doi.org/10.1038/s41598-021-81467-2 Text en © The Author(s) 2021 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/. |
spellingShingle | Article Ribeiro, Cristiano Luiz Pinto, Irene P. Pereira, Samara S. S. Minasi, Lysa B. de S. M. Kluthcouski, Fernanda de M. Arantes, Adriano da Cruz, Aparecido D. de Almeida, Marcio A. A. Howard, Tom E. da Silva, Cláudio C. Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes |
title | 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_short | 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 |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7854738/ https://www.ncbi.nlm.nih.gov/pubmed/33531543 http://dx.doi.org/10.1038/s41598-021-81467-2 |
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