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Myelodysplastic syndrome (MDS) is classified according to specific characteristics including multilineage dysplasia, excess blasts, isolated chromosomal 5q deletion, and the presence of ring sideroblasts (RSs). In the latter, the dysplasia is limited to the erythroid lineage, and RSs constitute ≥15% of the bone marrow erythroid precursors (N Eng J Med 2009; 361:1872). Recent evidence suggests that the formation of RSs is associated with dysfunction of an RNA splicing gene, splicing factor 3b subunit 1 (SF3B1).
To further study the relationship between RSs and SF3B1, investigators performed a genomic sequencing study of 456 patients with hematologic malignancies. They found that SF3B1 was mutated in 60% to 80% of patients with RSs, that mutan…