IMPORTÂNCIA DO DIAGNÓSTICO CITOGENÉTICO CONVENCIONAL COMO FATOR PROGNÓSTICO NA SINDROME MIELODISPLÁSICA

Abstract

This was a study of a low incidenced disease in the population that is myelodysplastic syndrome (MDS). This disease comprises a group of heterogeneous hematopoietic disorders of clonal nature that have in common, varying degrees of bone marrow failure and distinct levels of peripheral blood cytopenias and dysplasia in cell differentiation and may provide various forms of cytogenetic changes, sometimes progressing to leukemia. For MDS, can be identified through the changes with the aid of the karyotype, determine prognosis and to classify them into risk groups, which each patient will be subjected to a more individualized treatment.The objective of this study was to evaluate the cytogenetic and correlated the cytogenetic findings found with the clinical data of patientes in an attempt to improve prognostic information in cases of MDS. This study was conducted at NPR Núcleo de Pesquisas Replicon of Universidade Católica de Goiás e LaGene - de Citogenética Humana e Genética Molecular / SuLeide Superintendência Leide das Neves Ferreira, SES-GO in partnership with the Hospital of the Universidade Federal de Goiás and Hospital Araújo Jorge. We evaluated samples of peripheral blood and bone marrow with the aid of conventional cytogenetics, of 25 patients with clinical indication of MDS, with only 15 confirmed cases with MDS were included in this study. The results of cytogenetic tests showed a wide range of chromosomal abnormalities, including trisomy of chromosomes 21 and 22, monosomy of chromosomes 17 and Y translocation between chromosomes 3q, 8q and 10q, 16q and a duplication on chromosome 1. The deletions appeared more frequently, including deletions on chromosomes 7p, 5q 10q, 11q and 12p. We also observed an isochromosome 17, a ring chromosome and a marker chromosome of unknown origin in addition to the normal karyotypes. This diversity of findings is related to genomic instability, and the monosomy and deletions may be related to inactivation of tumor suppressor genes (TSG) and translocations can activate oncogenes, so these changes are related to the ineffective hematopoiesis in MDS. Also associated with prognosis, the clinical course and progression of the disease, and providing information to assist the diagnosis, classification, monitoring, treatment choice and a more adequate understanding to the broad diversity of the disease. This research will be important to stimulate new research in this area and may establish new partnerships between research centers and treatment, primarily to provide a better quality of life for patients with MDS and their families.