American Society of Hematology

Figure 2

$Figure 2. Distribution of recurrent mutations and karyotypic abnormalities in MDS. Clonal cells from ∼50% of MDS patients harbor a splicing factor (SF) mutation, and a similar fraction carry ≥1 mutated epigenetic regulator (ER). Approximately 25% of patients have mutations of genes in both groups. Patients with TP53 mutations often have fewer cooperating mutations and instead have a high rate of chromosomal abnormalities, including frequent complex karyotypes. Many other genes can be comutated with SF and ER genes, but such mutations also occur in the absence of SF or ER lesions in ∼15% of patients. Only approximately 10% of patients lack mutations in any of the common recurrently mutated genes. Fractions estimated from data in Bejar et al, Papaemmanuil et al, and Haferlach et al.47-50$

Distribution of recurrent mutations and karyotypic abnormalities in MDS. Clonal cells from ∼50% of MDS patients harbor a splicing factor (SF) mutation, and a similar fraction carry ≥1 mutated epigenetic regulator (ER). Approximately 25% of patients have mutations of genes in both groups. Patients with TP53 mutations often have fewer cooperating mutations and instead have a high rate of chromosomal abnormalities, including frequent complex karyotypes. Many other genes can be comutated with SF and ER genes, but such mutations also occur in the absence of SF or ER lesions in ∼15% of patients. Only approximately 10% of patients lack mutations in any of the common recurrently mutated genes. Fractions estimated from data in Bejar et al, Papaemmanuil et al, and Haferlach et al.^47-50

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