Acute megakaryoblastic leukemia in Down syndrome versus non-Down syndrome: A 6-year institutional experience in Western India

Devi TR, Brahmbhatt B

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Rama Devi T¹ and Beena Brahmbhatt^1,*

¹Department of Oncopathology, The Gujarat Cancer and Research Institute, Affiliated to B.J Medical College, Ahmedabad, Gujarat 380016, India

*Corresponding author: Dr. Beena Brahmbhatt, Associate Professor, Department of Oncopathology, The Gujarat Cancer and Research Institute, Affiliated to B.J. Medical College, Ahmedabad, Gujarat, 380016, India. Email: beenabrahmbhatt1974@gmail.com

Received 21 August 2025; Revised 30 October 2025; Accepted 17 November 2025; Published 28 November 2025

Citation: Devi TR, Brahmbhatt B. Acute megakaryoblastic leukemia in Down syndrome versus non-Down syndrome: A 6-year institutional experience in Western India. J Med Sci Res. 2026; 14(1):3-12. DOI: http://dx.doi.org/10.17727/JMSR.2026/14-1

Copyright: © 2026 Devi TR et al. Published by KIMS Foundation and Research Center. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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Abstract

Introduction: Acute megakaryoblastic leukemia (AMKL) is a rare acute myeloid leukemia (AML), with frequent myelofibrosis and few circulating blasts, posing a diagnostic challenge when diagnosis is based on morphology alone. AMKL can occur in children with down syndrome (DS) as well as children and adults without DS and carries an overall poor prognosis. To evaluate differences in complete blood count (CBC) parameters, blast percentage in peripheral smear (PS) and bone marrow aspirate (BMA), immunophenotypic (IPT) marker expression and assess overall survival (OS) in children and adults in DS AMKL and non-DS AMKL.

Materials and methods: In a 6-year retrospective study, we retrieved reports and slides of PS BMA, bone marrow biopsy (BMB), from slide archives and IPT and karyotyping reports from electronic records and MRD case files at our institute.

Results: Among 15 diagnosed AMKL cases 12 patients were children less than 7 years, and 3 were adults. The median age is 3 years. The M: F ratio is 1.5:1. Children with DS-AMKL were under 7 years age, and mostly infants (5/7). DS AMKL children had better OS than children with non-DS karyotypes, with poor OS in adults. IPT markers differed in their positivity and intensity in DS and Non-DS AMKL.

Conclusion: An integrated approach, analyzing PS, BMA morphology, and IPT is crucial for early diagnosis and effective management of AMKL, due to the poor OS in AMKL.

Keywords: acute megakaryoblastic leukemia; acute myeloid leukemia; AMKL, overall survival