The association between specific cytogenetic change and particular mutation pattern, such as TP53 with monosomal karyotype, RUNX1 with trisomy 21 and SF3B1 with inv3(q21q26.2) and del(11q) in MDS was recently reported, suggesting that mutation-induced genomic instability may result in specific cytogenetic abnormality41. This evidence concerns the gene SF3B1 and myelodysplastic syndrome.