ObjectiveTo investigate the clinical features, diagnostic and therapeutic methods, and prognosis of patients with acute myeloid leukemia (AML) who are positive for multiple genes.

MethodsThe clinical data of a 35-year-old male AML patient, who was admitted to The 940 ^th Hospital of the PLA Joint Logistics Support Force on October 10, 2021, were analyzed based on related literature.

ResultsThe patient was admitted due to rhinorrhea for 1 month and sore throat with cervical lymph node enlargement for 3 days. Based on laboratory test results, the patient was diagnosed with acute myelomonocytic leukemia with eosinophilia and mutations in the core-binding factor β subunit gene ( CBFβ-MYH11), located on the long arm of chromosome 16, as well as mutations in the Wilms' tumor 1 gene ( WT1), the stem cell factor receptor gene ( KIT), and the neuroblastoma RAS viral oncogene homolog ( NRAS). The patient was treated multiple times with a regimen of idarubicin combined with cytarabine (Ara-C), achieving complete remission with negative minimal residual disease detection. The patient tolerated the treatment well. However, after the fourth cycle of chemotherapy with Ara-C, the patient developed grade Ⅳ bone marrow suppression. Following treatment to increase white blood cells and platelets, as well as blood component transfusions, the patient's condition improved. Subsequently, after receiving intensified Ara-C treatment, the patient's condition stabilized.

ConclusionsAML with a positive CBFβ- MYH11 fusion gene has a favorable prognosis. However, the presence of a concomitant KIT mutation and a high proportion of primitive white blood cells in the peripheral blood at initial diagnosis may affect the prognosis of this type of AML. Additionally, WT1 is an independent prognostic factor for AML. RAS gene mutations do not impact overall survival, disease-free survival, complete remission, or relapse rates.