Transcriptomic Profiling of Isolated Trisomies in Adult Acute Myeloid Leukemia: A Brazilian Study

Isolated trisomy (IT) in adult acute myeloid leukemia (AML) is a cytogenetic abnormality associated with highly heterogeneous clinical and mutational outcomes. Next-generation sequencing (NGS) identified additional pathogenic mutations in 14 patients with IT on chromosomes 8, 9, 10, 13, 14, 21 and 22, selected from an initial cohort of 19 patients followed at the Unicamp Blood Center. In addition, we performed RNA-Seq in 13 patients, 10 with IT and 3 with AML with cytogenetically normal karyotype (CN), who served as controls. This study is the first conducted in Brazil to investigate the molecular characteristics of isolated trisomies in AML, offering a new perspective on the genetic and molecular heterogeneity of this leukemia subtype in the Brazilian population. Integrating bioinformatics tools allows a comprehensive approach to analysis, enabling the identification of differentially expressed genes (DEGs) between IT and NC groups, which may reveal molecular patterns unique to each subtype. In addition, the study explores enriched pathways and integrated genetic networks, providing functional insights into the molecular mechanisms underlying the heterogeneity of IT-AML. The aim of this study is also to identify potential biomarkers associated with IT subgroups, which may elucidate factors related to treatment resistance, disease progression and prognosis. By combining these approaches, we aim to expand the understanding of the biology of AML with isolated trisomies, contributing to the personalization of treatment and the development of more effective therapeutic strategies for this specific subtype of AML.