DOI: https://doi.org/10.53350/pjmhs22161490 ORIGINAL ARTICLE 490 P J M H S Vol. 16, No.01, JAN 2022 Evaluation of Chromosomal Abnormalities in Acute Myeloid Leukemia (AML) and Acute Lymphoid Leukemia (ALL) IRSHAD ALI MAGSI 1 , NAZISH JAFFAR 2 , AQSA NOUREEN 3 , ALIYA ZAMAN 4 , GHULAM MURTAZA JAMALI 5 , HUMAIRA AHMED 6 , HAREEM ARSHAD 7 , MUHAMMAD WASI ABBAS 8 , SHAHWAR BUGHIO 9 1 Assistant Professor Department of Medicine, Divisional Headquarter Hospital, Sibi, Balochistan 2 Assistant Professor Pathology Department Jinnah Sindh Medical University 3,4 Assistant Professor Pathology Department Muhammad Medical College, Mirpurkhas 5,6 Resident Chemical Pathology Dow Diagnostic Research and Reference Laboratory 7 Medical Officer Department of Medicine Jinnah Postgraduate Medical Center 8 Jinnah Sindh Medical University, Sindh Medical College 9 FCPS Internal Medicine Liaquat University of Medical and Health Sciences, Jamshoro Correspondence to: Irshad Ali Magsi, Email: drirshad554@gmail.com ABSTRACT Background: The present study evaluated the chromosomal and molecular variations in patients of acute myeloid leukemia (AML) and acute lymphoid leukemia (ALL). Methods and Materials: A cross-sectional study was conducted at the Department of Oncology at a tertiary care center between April 2018 and June 2021. A total of 314 cases of acute myeloid and lymphoid leukemias were evaluated. Molecular and cytogenetic tests were conducted on these patients. Peripheral and bone marrow smears of all the subjects were sent to the laboratory for molecular and cytogenetic studies. The diagnosis was confirmed with morphology and specific staining, such as Gimsa, myeloperoxidase, molecular, and cytogenetic findings. The results of BM karyotype were classified as normal diploid, hypo and hyper diploid, complex karyotype, and pseudo-diploid. Data was explored using Statistical Package for the Social Sciences (SPSS) version 26. Results: A total of 314 patients were included in the study. Around 40 percent were diagnosed with AML while the 60% had ALL. The mean age of patients was 31.5 +/- 5.6 years. The karyotype revealed that 55.4% were normal diploid, 5.2% were hypo-diploid, 8.4% were hyper-diploid, 18.54% were pseudo-diploid, and the remainder had complex karyotype. A significant difference was observed between the acute leukemia and mean age (P < 0.001). The mean age of acute myeloid leukemia (AML) patients was significantly higher than acute lymphoid leukemia (ALL). The pseudodiploid pattern was meaningfully more frequent in the AML patients compared with that in the MDS and ALL patients (P < 0.001). Chromosomal abnormalities including monosomy of chromosome 14 and trisomy of chromosome 3 were the most prevalent. Conclusion: The current study revealed the variations in the chromosomal abnormalities in patients with acute myeloid leukemia (AML) and acute lymphoid leukemia (ALL). The specific patterns associated with particular leukemia can help establish early diagnosis. Keywords: acute myeloid leukemia, acute lymphoid leukemia, chromosome, hematology, malignancy INTRODUCTION Leukemias are a group of hematological malignancies characterized by the rapid production of defective immune cells and a disruption of typical bone marrow function. These incompetent immune cells eventually impair the ability of the bone marrow to produce an adequate number of erythrocytes, platelets, and normal white blood cells [1]. Classification of leukemias is determined by cytomorphology, prognostic significance, immunophenotyping, and genetics [2]. Acute Leukemia (AL) is characterized by recurrent genetic abnormalities in acute myeloid leukemia (AML) and acute lymphoid leukemia (ALL) cases [3]. Moreover, AML is clinically a very heterogeneous disease. A total of seven hundred and forty-nine chromosomal aberrations have been identified in AML [4]. Cytogenetic investigations using G-banding and molecular assays are critical for diagnosis and targeted treatment of AL [5]. The Third International Workshop on Chromosomes in Leukemia (1983) was the first impactful study to signify the independent prognostic importance of cytogenetic findings for diagnosis of ALL. Even though classical cytogenetic analysis (G-banding) is not always successful due to the chromosomes having poor quality and indistinct banding, it is preferably used to detect chromosomal abnormalities [6]. Interestingly, molecular cytogenetic analysis allows instant and comprehensive identification of known target translocations. The presence of recurrent chromosomal abnormalities, such as t (8; 21), t (15; 17), and inv (16), is enough to diagnose AML [7]. Diagnosis of these chromosomal irregularities may help recognize the cause of leukemogenesis and provide advanced strategies for the treatment of patients [7,8]. Hence, in this research, we aimed to study the abnormalities in chromosomes of hematologic malignancies in different age groups and genders. METHODS AND MATERIALS A cross-sectional study was conducted at the Oncology Department in a tertiary care hospital, Pakistan between April 2018 and June 2021. Ethical approval was obtained prior to data collection. All cases diagnosed as AML and ALLwere included in the study. Peripheral and bone marrow smears of all the patients were sent to the pathology center for molecular and cytogenetic evaluation.