Document Type : Original Article
Authors
1
Clinical Research Development Center of Aliasghar Hospital, Iran University of Medical Sciences, Tehran, Iran.
2
Department of Hematology and Blood Banking, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.
3
Department of Pathology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Abstract
Pediatric acute myeloid leukemia (AML) is biologically heterogeneous, necessitating
integrated genetic and immunophenotypic profiling for precise diagnosis and risk
stratification. We analyzed 74 pediatric AML patients diagnosed between 2012 and 2023
at Ali-Asghar Children’s Hospital, Tehran, Iran, via blood counts, bone marrow
morphology, cytogenetic karyotyping, flow cytometry, and nested PCR for common
fusion genes. In this study, the median age was 5.9 years (range, 0.5–17 years). Clinical
presentations vary by cytogenetic subtype: t(15;17) is associated with bleeding, bruising,
and fever; t(8;21) is associated with moderate fever and fatigue; inv(16) is associated
with fatigue and minimal bleeding; trisomy 19 and duplication 5q often lack systemic
symptoms; and cytogenetically normal cases present diverse symptoms, including fever,
fatigue, weakness, and weight loss. The most frequent rearrangements were t (8;21)
(n=9, 12.16%), t(15;17) (n=8, 10.81%), and t(9;11) (n=8, 10.81%), whereas t(1;22) (n=2,
2.70%) and inv(16) (n=1, 1.35%) were rare. Immunophenotyping revealed universal
CD33 and CD45 expression (>90%), frequent CD34 positivity, the absence of HLA-DR
and CD11b at t (15;17), and characteristic CD34/CD33 patterns at t(8;21). Our findings
underscore the genetic and immunophenotypic complexity of pediatric AML and
highlight the value of integrated diagnostics for risk-adapted therapy. Personalized
treatment strategies may improve outcomes. However, multicenter studies are needed to
validate these findings and identify novel therapeutic targets.
Keywords: Acute myeloid leukemia, Cytogenetic abnormalities, Immunophenotyping,
Prognosis, Chromosomal translocations.
Keywords