Abstract
Background Acute megakaryoblastic leukaemia (AMkL) is a rare hematologic clonal malignancy, characterised by the accumulation of abnormal myeloid blasts with megakaryoblastic differentiation in the bone marrow and/or extra-marrow hematopoiesis sites with marked clinical heterogeneity in children and adult populations. Owing to a low occurrence in the daily clinical practice, AMkL presents a difficulty for immunophenotypic diagnostics.
Purpose We present 36 cases of children and adult AMkL observed from 2007 through 2014 at the Federal Scientific Clinical Center of Children Hematology, Oncology and Immunology in memory of Dima Rogachev, Moscow, Russia (FSCCCHOI), Pavlov First Saint-Petersburg State Medical University, Russia (PFSPbMU), and Research Center for Paediatrics and Children Surgery, Almaty, Kazakhstan (SCPCS).
Methods A retrospective analysis of clinical and multicolour flow cytometry data of AMkL was diagnosed in two Russian and one Kazakhstan clinical centers during 8 years has been performed, and the applicability of the modern diagnostic criteria was evaluated.
Results From 2,867 cases of acute leukaemia, we identified 36 patients with AMkL (1.26% of all cases) including 30 children and 6 adults with disease age onset ranged from 2 days to 75 years. Trisomy 21 was detected in 19.4% of the samples. In the group of children under 3 years (23), trisomy of chromosome 21 was detected in 7 patients (30.4%).
Conclusion Most typical immunophenotypical features of AMkL and its rare variants allow diagnosing it in ethnically diverse populations. We describe specific details of the sample preparation and interpretation of multicolour flow cytometry data.
Keywords
References
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