Identification of FLT3 and NPM1 Mutations in Patients with Acute Myeloid Leukaemia |
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| Authors: | Yuslina Mat YusoffZahidah Abu SemanNorodiyah OthmanNor Rizan KamaluddinEzalia EsaNor Amalina ZulkiplyJulia AbdullahZubaidah Zakaria |
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| Affiliation: | Haematology Unit, Cancer Research Centre, Institute for Medical Research, Jalan Pahang, 50588, Wilayah Persekutuan Kuala Lumpur, Malaysia. |
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| Abstract: | Objective: The most frequent acquired molecular abnormalities and important prognostic indicators in patientswith Acute Myeloid Leukaemia (AML) are fms-like tyrosine kinase-3 gene (FLT3) and nucleophosmin-1 (NPM1)mutations. Our study aims to develop a cost effective and comprehensive in-house conventional PCR method fordetection of FLT3-ITD, FLT3-D835 and NPM1 mutations and to evaluate the frequency of these mutations in patientswith cytogenetically normal (CN) AML in our population. Methods: A total of 199 samples from AML patients (95women, 104 men) were included in the study. Mutation analyses were performed using polymerase chain reaction(PCR) and gene sequencing. Result: Sixty-eight patients were positive for the mutations. FLT3-ITD mutations weredetected in 32 patients (16.1%), followed by FLT3-D835 in 5 (2.5%) and NPM1 in 54 (27.1%). Double mutations ofNPM1 and FLT3-ITD were detected in 23 cases (11.6%). Assays validation were performed using Sanger sequencingand showed 100% concordance with in house method. Conclusion: The optimized in-house PCR assays for thedetection of FLT3-ITD, FLT3-D835 and NPM1 mutations in AML patients were robust, less labour intensive and costeffective. These assays can be used as diagnostic tools for mutation detection in AML patients since identification ofthese mutations are important for prognostication and optimization of patient care. |
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| Keywords: | Acute myeloid leukaemia FLT3 gene FLT3-ITD gene FLT3-D835 gene NPM1 gene |
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