Acute Myeloid Leukemia with Eosinophilia (FAB AML-M4Eo) having NPM1/DNMT3A/IDH2 Gene Mutations and t(5;12)(q31;p13)

AML-M4Eo is a type of AML characterized by malignant proliferation of granulocyte and monocyte precursor cells accompanied by eosinophilia. Patients present as anemia, infection, bleeding, and tissue and organ infiltration. MICM classification makes the classification of AML more accurate and lays a foundation for the correct treatment and prognosis of AML.

Blood routine and bone marrow routine tests were used to detect the cell proliferation condition in peripheral blood and bone marrow of patients. AML 96 genes test and bone marrow cytogenetic examination were used to determine the results of gene mutations and chromosome abnormalities.

Blood routine of the patient indicated a WBC of 125 × 109/L with 28% blasts. Bone marrow biopsy was performed based on the medical history. The bone marrow routine showed 12.0% myeloblasts, 11.0% promonocytes and 15% eosinophilic cells, indicating AML-M4Eo. AML gene and cytogenetic analysis showed NPM1/ DNMT3A/IDH2 gene mutations and t(5;12)(q31;p13).

Based on the case and relevant literatures, we explored the relationships between AML and NPM1/ DNMT3A/IDH2 gene mutations and t(5;12)(q31;p13), as well as their values in treatment and prognosis for AML.