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Background: Acute lymphoblastic leukemia (ALL) is the most common hematological malignancy in children that is caused by gene mutations and chromosomal rearrangements in lymphoid cells. Aim: In this study, for the first time, the prevalence of cytogenetic and molecular genetic abnormalities was discussed in children with ALL from 2014 to 2017 in Ahvaz. Materials and Methods: A total of 72 children were diagnosed as ALL patients by morphology, clinical examinations, and flow cytometry assays. Cytogenetic and molecular genetic analysis was done on bone marrow (BM) samples by BM culture and reverse transcription-polymerase chain reaction technique, respectively. Descriptive data analysis was done using SPSS software. Chi-square and independent samples t-test was used to assess the correlation between variables. Results: Sixty-five cases (90.3%) were preB lineage and 7 cases (9.7%) were T-lineage out of 72 ALL patients, t(9,22) BCR-ABL (p190) is the most frequent cytogenetic and molecular genetic abnormality in preB ALL (7%) and T-ALL patients (28.6%), respectively. t(4,3) inv (16) and t(2,8) were introduced as novel cytogenetic abnormalities in preB ALL cells. No significant correlation was found between gender, molecular genetic abnormalities, and white blood cell count in patients. Conclusion: For the first time in this study, the highest percentage of cytogenetic and molecular genetic abnormalities was related to t(9,22) BCR-ABL in both ALL subtypes in children. The evaluation of cytogenetic and molecular genetic abnormalities in children with ALL is essential in estimating the prognosis in both preB and T-ALL subtypes, which will be a great contribution to achieve a better diagnosis and develop appropriate therapeutic approaches.
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