Document Type : Original Article


Cancer Molecular Pathology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran


Background: Excess proliferation of blood cells may lead to leukemia, which is associated with structural and numerical chromosomal aberrations. Cytogenetic findings of acute lymphoblastic leukemia can be applicable in diagnosis, prognosis, and treatment selection for patients. In the present study we have evaluated molecular, cytogenetic, and immunophenotypic findings in acute lymphoblastic leukemia patients from Mashhad, a city in Northeast Iran.
Methods: This cross-sectional study enrolled 124 patients with acute lymphoblastic leukemia during 2015-2017. Two expert hematopathologists confirmed the diagnosis of acute lymphoblastic leukemia in patients’ peripheral blood and bone marrow smears. Molecular tests that included t(4;11), t (1;19), t (9;22)-190, and t (12;21) were done by reverse transcriptase real-time quantitative PCR. We performed karyotyping and immunophenotyping of the bone marrow samples. The data were analyzed by SPSS v.17.
Results: Mean age of studied cases was 20.01 years. Participants consisted of 64% males and 36% females. Cytogenetic results showed that 23.37% of participants had a normal karyotype; the other participants had the following abnormalities: hyperdiploidy (12.06%), hypodiploidy (21.55%), pseudodiploidy (24.13%), and high hyperdiploidy (18.10%). Molecular analysis of karyotype patterns indicated that 14% of the acute lymphoblastic leukemia patients had the t(12;21), 9% with t(1;19), 2.5% with t(4;11), and 2.5% had the t(9;22).
Conclusion: The unique findings of the present study were the presence of previously unreported novel abnormalities. These findings might be useful for oncologists and hematologists in predicting outcome, remission, survival, and treatment response in acute lymphoblastic leukemia patients.