Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes
| Autor: | Lysa Bernardes Minasi, Cláudio Carlos da Silva, Fernanda de S. M. Kluthcouski, Tom E. Howard, Aparecido Divino da Cruz, Adriano de M. Arantes, Marcio Almeida, Cristiano Luiz Ribeiro, Samara Socorro Silva Pereira, Irene Plaza Pinto |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male 0301 basic medicine DNA Copy Number Variations Science Karyotype Diseases Disease Biology Article law.invention 03 medical and health sciences Medical research 0302 clinical medicine law Genetics medicine Humans Viability assay Gene Aged Cancer Chromosome Aberrations Multidisciplinary Microarray analysis techniques Mesenchymal stem cell Middle Aged medicine.disease 030104 developmental biology Oncology Myelodysplastic Syndromes 030220 oncology & carcinogenesis Cancer research Medicine Suppressor Female Biotechnology |
| Zdroj: | Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021) Scientific Reports |
| ISSN: | 2045-2322 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|