Abstract
The presence of recurrent gene mutations is increasingly important in acute myeloid leukemia (AML) and sheds new insights into the understanding of leukemogenesis, prognostic evaluation, and clinical therapeutic efficacy. Until now, ten-eleven translocation 2 (TET2) and isocitrate dehydrogenase 2 (IDH2) mutations were reported to be mutually exclusive in AML patients. Similarly, nucleophosmin (NPM1) and additional sex comb-like 1 (ASXL1) mutations were rarely coexisted in AML. A 47-year-old man diagnosed with high-risk AML presented simultaneous mutations of TET2–IDH2 and NPM1–ASXL1 revealed by next-generation sequencing. After successful treatment with chemotherapy followed by HLA haploidentical transplantation, he achieved a clinical complete remission without evidence of overt graft-versus-host disease. This case highlights that HLA haploidentical transplantation might be a safe and feasible therapy for AML patients who are characterized by TET2–IDH2 and NPM1–ASXL1 co-mutations.
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