Although some studies have reported relationships between cytogenetic subgroups, molecular markers and age in acute myeloid leukemia (AML), conclusions based on data from a Chinese population are lacking. In the present study, we evaluated 640 patients with de novo AML. The patients were divided into 8 age groups, i.e. 0–9, 10–19, 20–29, 30–39, 40–49, 50–59, 60–69 and ≥70 years, and were then classified into cytogenetic groups based on normal, balanced and unbalanced karyotypes [including both complex karyotypes (CKs) and monosomal karyotypes (MKs)]. Different age distributions were observed in these karyotype groups. The frequency of the normal karyotype increased with age from 6.67 to 58.33% (χ2 = 20.68, p = 0.001), whereas that of the balanced karyotypes decreased with age from 73.33 to 11.11% (χ2 = 48.22, p < 0.001). Furthermore, the occurrence of the unbalanced karyotypes and CKs also increased with age (p < 0.05). No age-specific distributions were observed for the MK subgroups and the different molecular markers (NPM1, FLT3-ITD and c-kit). The cytogenetic subtypes were also related to the French-American-British classification, peripheral blood white cell count and molecular markers. In conclusion, the different age profiles of the cytogenetic subtypes may implicate different mechanisms in the pathogenesis of AML, which may be beneficial for etiological research and the prevention of AML.

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