Frequencies and clinical characteristics of common fusion oncogenes in core-binding factor Acute Myeloid Leukemia from Lahore Pakistan

Background: Acute myeloid leukemia (AML) is one of the most common blood cancers among adults. Genetic abnormalities associated with core-binding factor AML (CBF-AML) help in accurate diagnosis and prognostic stratification, and therefore help in clinical management of the disease. No studies have been carried out about frequencies of genetic abnormalities of CBF-AML and their association with clinical parameters in Lahore region of Pakistan. Therefore, objective of this study was to carry out genetic and characterization of CBF-AML. Methods: The blood samples were collected along with clinical data AML patients from different hospitals of Lahore Pakistan July 2010 to Dec. 2020. RNA was extracted and RT-PCR was employed to detect CBF-AML -associated fusion oncogenes (AML1-ETO and CBFB-MYH11). Data was analyzed using SPSS version 25.Results: Frequencies of AML1-ETO and CBFB-MYH11 were 13.6% and 11.4%, respectively. AML1-ETO had significant association with FAB subtype AML-M2, occupational exposure to chemical solvents and exposure to petrol products. One the other hand, CBFB-MYH11 was significantly associated with splenomegaly, FAB subtype AML-M4 patients and insecticides exposure.Conclusions: Our results show that overall frequencies AML1-ETO and CBFB-MYH11 and hence CBF-AML is comparable to other ethnic groups. Correlation of specific genetic abnormalities with exposures to chemicals indicates a strong interplay between AML genetics and pollutants. This study will help not only in differential diagnosis and prognostic stratification of AML in Pakistan, but it also opens new windows to better understand biology of AML in correlation with environmental exposure.Keywords: Acute Myeloid Leukemia; Genetic abnormalities; Core-binding factor leukemia, Prognostic stratification; environmental exposure