Analysis 33 patients of non-DS-AMKL with or without acquired trisomy 21 from multiple centers and compared to 118 AML patients

Background Acute megakaryoblastic leukemia (AMKL) without Down syndrome (non-DS-AMKL) usually a worse outcome than DS-AMKL. Acquired trisomy 21(+21) was one of the most common cytogenetic abnormalities in non-DS-AMKL. Knowledge of the difference in the clinical characteristics and prognosis between non-DS-AMKL with +21 and those without +21 is limited. Objective Verify the clinical characteristics and prognosis of non-DS-AMKL with +21. Method We retrospectively analyzed 33 non-DS-AMKL pediatric patients and 118 other types of AML, along with their clinical manifestations, laboratory data, and treatment response. Results Compared with AMKL without +21, AMKL with +21 has a lower platelet count (44.04 & PLUSMN; 5.01G/L) at onset (P > 0.05). Differences in remission rates between AMKL and other types of AML were not significant. Acquired trisomy 8 in AMKL was negatively correlated with the long-term OS rate (P < 0.05), while +21 may not be an impact factor. Compared with the other types of AML, AMKL has a younger onset age (P < 0.05), with a mean of 22.27 months. Anemia, hemorrhage, lymph node enlargement, lower white blood cell, and complex karyotype were more common in AMKL (P < 0.05). AMKL has a longer time interval between onset to diagnosis (53.61 & PLUSMN; 71.15 days) (P < 0.05), and patients with a diagnosis delay & GE;3 months always presented as thrombocytopenia or pancytopenia initially. Conclusions Due to high heterogeneity, high misdiagnosis rate, and myelofibrosis, parts of AMKL may take a long time to be diagnosed, requiring repeated bone marrow punctures. Complex karyotype was common in AMKL. +21 may not be a promising indicator of a poor prognosis.

Automated summary

In non-DS-AMKL, patients with acquired trisomy 21 (+21) have lower platelet counts at onset compared to those without +21, but there are no significant differences in remission rates and prognosis. Non-DS-AMKL has a younger onset age and is often associated with anemia, bleeding, lymph node enlargement, lower white blood cell count, and complex karyotype. Patients with delayed diagnosis often present with thrombocytopenia or pancytopenia initially.