ABSTRACT
Objective: To determine the frequencies of three isoforms of PML RAR[alpha] fusion gene in APL
Study Design: Descriptive cross sectional study
Place and Duration of Study: Department of Hematology, Armed Forces Institute of Pathology [AFIP], Rawalpindi Pakistan, from Apr 2015 to Oct 2015
Material and Methods: This study involved 97 newly diagnosed cases of APL, aged between 15-70 years from both genders. Double nested PCR was carried out by Applied Biosystems 2720 Thermal Cycler in every patient to determine the isoform of PML RAR[alpha] fusion gene. A written informed consent was obtained from every patient
Results: The age of the patients ranged from 17 years to 69 years with a mean of 37.87 +/- 12.89 years. There were 68 [70.1 percent] male and 29 [29.9 percent] female patients in the study group. The bcr1 isoform was found in 9 [9.3 percent] patients. There was no significant difference in the frequency of bcr1 isoform across age groups; 17-34 years vs. 35-52 years vs. 53-69 years [14.6 percent vs. 7.0 percent vs. 0.0 percent; p=0.223] and genders; male vs. female [7.4 percent vs. 13.8 percent; p=0.317]. The bcr2 isoform was found in 26 [26.8 percent] patients. There was no significant difference in the frequency of bcr2 isoform across age groups; 17-34 years vs. 35-52 years vs. 53-69 years [19.5 percent vs. 27.9 percent vs. 46.2 percent; p=0.164] and genders; male vs. female [25.0 percent vs. 31.0 percent; p=0.539] while the bcr3 isoform was found in 62 [63.9 percent] patients. There was no significant difference in the frequency of bcr3 isoform across age groups; 17-34 years vs. 35-52 years vs. 53-69 years [65.9 percent vs. 65.1 percent vs. 53.8 percent; p=0.717] and genders; male vs. female [67.6 percent vs. 55.2 percent; p=0.242]
Conclusion: The most frequent isoform of PML-RAR[alpha] fusion gene was bcr3 which was observed in 62 [63.9 percent] cases followed by bcr2 [26.8 percent] and bcr1 [9.3 percent]. There was no significant difference in the frequency of isoforms with patient's age and gender