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Atoofa Rukhsar
Muhammad Tayyab
Asma Ahmed
Sara Zahid
Hafsa Ashfaq
Sarwat Naeem
Mehrunissa Akbar Ali
Neha Iqbal Sargana
Laiba Malik
Areesha Malik
Rehana Badar


Acute myeloid leukemia (AML), AML1-ETO, CBFB-MYH11, NRAS, NPM1, SNPs


Acute myeloid leukemia (AML) is one of the first tumor types sequenced at the whole genome level, in which mutations in nucleophosmin NPM1 and RAS are the most frequently acquired molecular abnormalities. In a current study, human blood samples of AML patients were collected from Jinnah hospital, Mayo hospital and Institute of Nuclear Medicine and Oncology (INMOL), Lahore. Clinical and haematological characteristic of AML patients of different age groups and genders according to AML1-ETO and CBFB-MYH11 transcripts, followed by the analysis of Neuroblastoma RAS (NRAS) coding sequence mutation, Nucleophosmin1 (NPM1) gene coding sequence mutation and NPM1 3’UTR Variant mutation through DNA and RNA isolation, Primer designing and sequence analysis through RT-PCR, which led to the detection of frequencies of FAB sub-types and frequency distribution of N-RAS and NPM1 gene mutations in AML Pakistani patients. Statistically analysed results indicated that prevalence of this disease is common in adults (85.71%) as compared to paediatric (14.28%). AML fusion oncogene (AML1-ETO) was detected in 26.6% AML patients, with higher frequency in AML-M2 patients (34.2%). The percentage of AML patients with error was 2.86% with the frequency of 0.02. SNP5 and was not deviated from SNP1 and SNP2 because it also showed similar results, except for gender based (both) data (p >0.001) and it shows significant correlation of gender with SNP5 while all other parameters gave non-significant results (p< 0.001). However, mutation in NRAS gene was detected in total 51.4% of AML patients. In conclusion, the role of different types of NPM1 mutations, either individually or in the presence of RAS mutations may be essential for AML prognosis.

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