Document Type: Research Articles
Section of Hematology and Transfusion Medicine, Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Stadium Road, 74800, Karachi, Pakistan.
Department of Oncology, Aga Khan University Hospital, Stadium Road, 74800, Karachi, Pakistan.
Objectives: The heterogenous response to treatment in acute myeloid leukemia (AML) can be attributed largely to
the difference in cytogenetic features identified in between cases. Cytogenetic analysis in acute leukemia is now
routinely used to assist patient management, particularly in terms of diagnosis, disease monitoring, prognosis and risk
stratification. Knowing about cytogenetic profile at the time of diagnosis is important in order to take critical decisions
in management of these patients. The study was conducted to determine the distribution of cytogenetic abnormalities in
Pakistani adult patients with AML in order to have insights regarding behavior of the disease. Methods: A retrospective
analysis 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. Results:
A total of 321 patients were diagnosed with AML during the study period, of which 288 samples successfully yielded
metaphase chromosomes. The male to female ratio was 1.7:1. A normal karyotype was present in 61% (n=176) of
the cases whereas, 39% (n=112) had an abnormal karyotype. Of the abnormal cases, t (8;21) (q22;q22) and t (15;17)
(q22;q12) were identified in 8.3% and 4.9% cases respectively. Adverse prognostic cytogenetic subgroups including
complex karyotype, monosomy 7 and t(6;9)(p23;q34) were identified in 9%, 1% and 0.7% patients respectively.
Conclusions: This largest cytogenetic data in adult AML from Pakistan showed comparable prevalence of favorable
prognostic karyotype to international data. The prevalence of specific adverse prognostic karyotype was low.