TET2 expression level and 5-hydroxymethylcytosine are decreased in refractory cytopenia of childhood.

摘要: Myelodysplastic syndromes (MDS) are myeloid malignancies characterized by ineffective hematopoiesis, dysplasia, peripheral cytopenia and increased risk of progression to acute leukemia. Refractory childhood (RCC) is the most common subtype pediatric MDS has overlapping clinical features with viral infections autoimmune disorders. Mutations in TET2 gene found about 20-25% adult associated a decrease 5-hydroxymethylcytosine (5-hmC) content. deregulation its malignant potential were reported but not MDS. We evaluated expression presence mutations 19 patients RCC. level was correlated 5-hmC amount DNA possible regulatory epigenetic mechanisms. One out RCC carrier mutation. levels decreased when compared disease-free group. Lower mutation or status promoter methylation, significant correlation microRNA-22 found. These findings suggested that downregulation low inversely related miR-22 expression. The existence loop between may play role pathogenesis.