Karyotype Complexity and characterization of childhood acute myeloid leukemia (AML) in Pakistan

Date 24 November 2018
Event ESMO Asia 2018 Congress
Session Poster display - Cocktail
Topics Leukaemia
Cancers in Adolescents and Young Adults (AYA)
Pathology/Molecular Biology
Presenter Zeeshan Ahmed
Citation Annals of Oncology (2018) 29 (suppl_9): ix87-ix93. 10.1093/annonc/mdy437
Authors Z.A. Ahmed, M.S. Shaiakh, T. Moatter, A. Nasir
  • Pathology And Laboratory Medicine, The Aga Khan University Hospital, 74800 - Karachi/PK



Acute myeloid leukemia (AML) is a heterogeneous disease. Based on cytogenetics findings, AML patients are stratified into three major risk categories: favorable, intermediate and unfavorable. For the intermediate risk category, it has been difficult to stratify prognostically due to the clinical heterogeneity and scarce knowledge of the molecular alterations underlying in childhood AML subgroup. Knowing about cytogenetic profile at the time of diagnosis is important in order to take critical decisions in management of these patients. Aim and Objectives: To determine and characterize cytogenetic abnormalities in Pakistani pediatrics patients with AML.


A retrospective review of all the cases of AML (<15years old) diagnosed at Aga Khan University from January 2011 to December 2016 was performed. Cytogenetic analysis was made for all cases using the trypsin-Giemsa banding technique. Karyotypes were interpreted using the International System for Human Cytogenetic Nomenclature (ISCN) criteria.


A total of 67 patients were diagnosed as AML during the study period with male to female ratio of 1.5:1. A normal karyotype was present in 45% (n = 30) of the cases whereas, 55% (n = 37) had an abnormal karyotype. Of the abnormal cases, t(8;21)(q22;q22) was identified in 15% cases. In poor prognostic group complex karyotype was 19%. Intermediate prognostic cytogenetic subgroups including structural anomalies (partial deletions and additions and translocations except deletion 7), trisomies were identified in 10% and 06% patients respectively.


This study showed recurrent cytogenetic abnormalities in 55% Pakistani Children with AML. Favorable karyotypes, t(8;21)(q22;q22.1) was identified as the most prevalent specific chromosomal abnormality; the cumulative prevalence however was not significantly different in various age groups. This is in agreement with observations in international literature. Our data shows that the structural anomalies and complex karyotypes constituted the predominant unfavorable karyotype. To the best of our knowledge, this observation has not been reported before in Pakistani pediatrics patients with AML.

Editorial acknowledgement

Clinical trial identification

Legal entity responsible for the study

Zeeshan Ansar.


Has not received any funding.


All authors have declared no conflicts of interest.