title: Detection of FLT3/TKD and IDH1 Mutations in Pakistani Acute Myeloid Leukemia Patients by Denaturing HPLC.
abstract: Acute myeloid leukemia (AML) is characterized by an increase in the number of myeloid cells in the marrow and an arrest in their maturation. Various genetic mutations are associated with AML. FMS-like tyrosine kinase 3 (FLT3), a member of the class III receptor tyrosine kinase family, plays an important role in stem cell survival, and the development of dendritic and natural killer cells. FLT3/TKD mutations are generally missense mutations or in-frame alterations of residues D835 and I836 within the activation loop of the FLT3 protein. D835 mutations have been reported to occur in ≈ 7% of AML patients. Mutations have also been reported in exon 4 of isocitrate dehydrogenase 1 (IDH1) in ≈9% of AML patients. Mutations in FLT3/TKD and IDH1 genes were studied in AML patients from Pakistan and correlated with the laboratory findings. FLT3/TKD mutations were found in 7%, while IDH1 mutations were found in 10% Pakistani AML patients. Neither of these mutations was significantly correlated with age and sex, although the incidence of these mutations was higher in female patients. These mutations were found to be positively associated with each other. IDH1 mutations were positively associated with FAB type M1 and negatively associated with FAB type M2. In conclusion, the overall incidence of all these mutations in Pakistani patients was within the globally reported ranges. J. Cell. Biochem. 118: 1174-1181, 2017. © 2016 Wiley Periodicals, Inc.
authors.affiliation: School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan.|Faculty of Pharmacy, Northern Border University, Rafha, Kingdom of Saudi Arabia.
authors.forename: Akbar
authors.initials: A
authors.lastname: Ali
authors.affiliation: Department of Haematology, University College London Cancer Institute, London, United Kingdom.
authors.forename: Rosemary E
authors.initials: RE
authors.lastname: Gale
authors.affiliation: School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan.
authors.forename: Abdul Rauf
authors.initials: AR
authors.lastname: Shakoori
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D059645:Mutation Rate; D010154:Pakistan; D000072417:Protein Domains; D055815:Young Adult; D051941:fms-Like Tyrosine Kinase 3 / Q000737:chemistry / Q000235:genetics*
chemical_list: D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human; C497970:FLT3 protein, human; D051941:fms-Like Tyrosine Kinase 3
keywords: ACUTE AMYELOID LEUKEMIA; AML; FLT3/TKD MUTATIONS; IDH1 MUTATIONS; WBC COUNT