Objective To analyze the clinical features, diagnosis and treatment and prognosis of acute megakaryocytic leukemia (AMKL), and then review the relative of AMKL. Methods Retrospectively study the clinical data of 14 AMKL patients admitted to Fujian Medical University Union Hospital and the First Affiliated Hospital of Gannan Medical University from January 2016 to May 2021, analyze and discuss the clinical features, diagnosis and differential diagnosis, treatment and prognosis of AMKL patients, and search domestic or foreign literature for the literature review at the same time. Results A total of 14 AMKL patients were included in present study, including 6 children [4 males and 2 females, with a median age of 2 years (13 months to 6 years)]; 8 adult patients [5 males and 3 females, with a median age of 57 (19-78) years]. The clinical manifestations of the patients were mainly non-specific symptoms of blood diseases. All patients underwent bone marrow biopsy, and a large number of primitive megakaryocytes were seen under the microscope. Except for 2 patients with incomplete flow immunophenotyping, cytogenetics and molecular biology tests, all the remaining 12 patients had megakaryocyte antigens (CD41, CD61, CD42b) expression, accompanied by genetic or molecular biology abnormalities. Except for 1 patient who survived after bone marrow transplantation and 1 patient who was lost to follow-up, the remaining 12 patients died, the median survival time was 5.5 (0–21) months. A total of 249 cases of AMKL patients in mainland of China (excluding Hong Kong, Macao and Taiwan) were reported from 2002 to 2022,of which 16 cases were transformed by other hematological tumor diseases: 6 cases were transformed by chronic myeloid leukemia(CML), 4 cases were transformed by myelodysplastic syndrome (MDS), 3 cases were transformed by myelofibrosis (MF), 2 cases were transformed by primary immune thrombocytopenia (ITP), and 1 was transformed by acute lymphoblastic leukemia (ALL).Among the 249 AMKL patients, 24 survived and 225 died. Most of the causes of death were disease progression, recurrence after chemotherapy or transplantation, severe infection, and fatal hemorrhage. Conclusions AMKL is rare and has an extremely poor prognosis with lack of specificity in clinical manifestations. It is helpful for diagnosis and differential diagnosis of AMKL by the results of bone marrow routine and pathology, flow cytometry, cytogenetics, molecular biology and electron microscopy. Clinical trials should be the first choice for the treatment of AMKL, correspondingly, close monitoring of measurable residual disease (MRD),and the remission induction chemotherapy combined with epigenetic drugs and targeted therapy may benefit patients. In addition,AMKL patients should undergo hematopoietic stem cell transplant as soon as possible after the first complete remission induced by standard chemotherapy, which will maximize the prognosis of patients.