RACIAL/ETHNIC DISPARITIES IN MYELODYSPLASTIC NEOPLASMS: CLINICAL CURRENT INSIGHTS AND FUTURE DIRECTIONS

Abstract

Myelodysplastic Neoplasm (MDS) encompasses a group of hematological disorders characterized by deficiencies in normal hematopoietic processes, leading to peripheral cytopenias, increased blasts in the bone marrow and peripheral blood. Some clinical signs are fatigue and weakness. MDS is extensively studied worldwide, and exhibits distinct characteristics on each continent, with variations in sociodemographic features and direct influences from the environmental conditions of each region. In this study, we assessed the sociodemographic differences in MDS across various continents, and the genetic characteristics of the disease globally. We conducted a systematic review evaluating key publications in the field of oncohematology with a focus on MDS. We reviewed a total of 250 articles, of which 29 were selected for bibliographic analysis and evaluation of sociodemographic data of patients diagnosed with MDS across all continents. Initially, we identified variations in age concerning the time of MDS diagnosis on each continent. South American patients had a mean age of 64, while North American patients had a mean age of 70. This finding showed a significant discrepancy compared to the average age of Asian patients, who had an average age of 50. Regarding cytogenetic findings, no variations in cytogenetic alterations were identified in the reviewed studies. Deletion of the long arm of chromosome 5, as well as monosomy 7 and trisomy 8, remain the primary alterations worldwide. Additionally, at least 50% of patients diagnosed with MDS across continents do not present chromosomal abnormalities in cytogenetic examinations. In evaluating MDS studies, we observed that the largest literary contribution comes from American countries. Brazil has proven to be a reference in assessing the sociodemographic and molecular characteristics of MDS patients. In this context, Latin American patients show well-evaluated expression profiles and genotyping, particularly in genes related to repair control, epigenetics, and the cell cycle. In the Brazilian population, the genotype of the ATM gene polymorphism is associated with increased ATM gene expression in high-risk and very high-risk patients. Furthermore, polymorphism of the XRCC6 gene and the LIG4 gene polymorphism showed significant results in variables such as bone marrow cellularity, and differences between younger and older patients. In this study, we identified sociodemographic variations among patients diagnosed with MDS worldwide. These variations occur even among countries within the large American continent. The main variation identified is age at diagnosis, although cytogenetic characteristics remain similar across countries globally. MDS is a heterogeneous disease, particularly among different countries assessing its characteristics and pathogenesis. Population-based studies are needed to identify the possible causes of these variations.