Analysis of autoimmune mechanisms of myelodysplastic syndromes

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It was well known that many patients with aplastic anemia (AA) develop clonal disorders including myelodysplastic syndromes (MDS). Although the underlying mechanism is poorly understood, some escape from cytotoxic T-cells involved in AA pathogenesis is implicated in the progression to MDS. In this study, through a comprehensive analysis of somatic mutations in AA, we identified frequent somatic mutations of a wide variety of genes in as many as 60% of patients with AA. Some mutations affected known mutational targets in MDS, such as DNMT3A, ASXL1, and BCOR. Our results may indicated that these mutational targets could represent common targets of CTLs in AA, which when mutated, involved not only in escaping from CTL but also in clonal selection in MDS. It should be warranted in future studies to test whether these mutational targets encode common epitopes that are recognized by CTLs in AA.