Expressão gênica de NFKB e genes da imunidade inata em pacientes com Neoplasia Mielodisplásica (SMD) e Leucemia Mieloide Aguda relacionada a SMD (LMA-RM)

Abstract

Myelodysplastic neoplasms (MDS) are clonal disorders of hematopoietic stem cells, leading to bone marrow dysplasia, cytopenias, genetic abnormalities, and high risk of progression to Acute Myeloid Leukemia (AML). Elderly individuals are predominantly affected. Exposure to genotoxic agents and chronic inflammation contribute to clonal hematopoiesis and molecular instability. The TLR pathway, involving adapter proteins such as MYD88, IRAK1/2/4, and TRAF6, activates NFKB and promotes cytokine release. This study investigated gene expression of these markers in 82 patients (76 with MDS and 6 with MDS-related AML), compared to 10 healthy controls. Increased NFKB and IRAK4 expression were observed in high-risk subtypes, while MYD88, IRAK1 and TRAF6 were underexpressed in patients with worse clinical and cytogenetic profiles.