@article{Sehrish Nadyme_Nadia Sajid_Saqib Mehmood_2019, title={Mutations of FLT 3 Gene in Pakistani Acute Myeloid Leukemia Patients }, volume={25}, url={https://www.annalskemu.org/journal/index.php/annals/article/view/2862}, DOI={10.21649/akemu.v25i2.2862}, abstractNote={<p><strong><u>ABSTRACT:</u></strong></p> <p><strong>Background: A</strong>cute myeloid leukemia, AML, is a hematological malignancy, with diverse genetic abnormalities. Mutations in FLT3 gene are the most common aberrations found in AML. The two important FLT3 mutations are ITD and D835 mutation. Both of these mutations are of prognostic significance in AML and are target of currently developing new drugs which are part of strategies to improve outcome of AML patients.</p> <p><strong>Objectives: </strong>The objective of this study was to determine the frequency of ITD and <em>D835</em> mutations of <em>FLT3 </em>gene in AML patients in Pakistani population.</p> <p><strong>Methodology: </strong>47 untreated and diagnosed male and female AML patients of all age groups were included in the study. After DNA extraction, exons 14 and 15 (for ITD) and exon 20 (for <em>D835</em>) of <em>FLT3</em> gene were amplified by PCR. For ITD mutation detection, PCR products were analyzed by amplified fragment length polymorphism analysis, while <em>D835</em> mutations were detected by restriction fragment length polymorphism by using <em>Eco</em>RV restriction enzyme.</p> <p><strong>Results:</strong> Frequencies of both <em>FLT3</em>/ITD and <em>FLT3</em>/<em>D835 </em>mutations were found to be 6.4%. ITD mutation shows a significant association with old age and high WBC count.</p> <p><strong>Conclusion:</strong> The frequency of <em>FLT3</em>/ITD mutations, found in the present study, is lower than that reported in other studies, while that of <em>D835</em> mutation is within the range observed by most researchers. This lower ITD frequency than usual while normal D835 frequency showed the possibility that, instead of ITD mutation, other mutations of the <em>FLT3</em> gene (like D835) <strong>may be</strong> more common in the local population. </p>}, number={2}, journal={Annals of King Edward Medical University}, author={Sehrish Nadyme and Nadia Sajid and Saqib Mehmood}, year={2019}, month={Jun.} }