Frequencies and distributions of molecular mutations. Identified mutations and their frequencies in patients annotated according to karyotype by MC and SNP-A (A) and diagnostic criteria of CMML-1, CMML-2, and sAML (B). Most identified mutations were detected in patients with a normal karyotype by MC. SNP-A improved the detection rate, and only 10% of patients with uncovered SNP-A lesions did not carry any mutation. Among these patients an accumulation of mutations was observed (≥ 3 mutations in 19% vs 7% in those without new SNP-A lesions). Additional accumulation of mutations was found in AML derived from CMML compared with CMML-1/2. (C) Systematic mutational sequencing shows almost all possible combinations of genetic states for studied genes in patients with CMML and AML derived from CMML. Of 72 patients, only 14% of patients did not display mutations in any of the studied genes.