000			03224nam a22001697a 4500
999			_c21873 _d21873
005			20221018170337.0
008			221018b ||||| |||| 00| 0 eng d
020			_ahbk
082			_a591 _bId26
100			_aErum Zafar, _bBS Zoology, _c2015-2019, _dSupervised by Dr.Afifa M. Akram
245			_aIndentification of N-RAS Exon 2 mutations and their prognostic importance in acute myeloid leukemia (AML) patients from Pakistan _c/ Erum Zafar
260			_aLahore : _bDivision of Science & Technology, University of Education, _c2019
300			_axvi, 67 p. _eCD
520			_aLeukemia is an uncontrolled growth of blood cells. This uncontrolled cell division occurs due to the mutation occurring in proto-oncogenes such as NRAS, c-kit, FLT3, NPM1, KRAS etc in either myeloid or lymphocytic lineages. When the NRAS is in active state it stimulate a cascade of intracellular pathway leading to normal cell division and proliferation. However, the mutations in NRAS gene causes a prolonged or sustained activation of NRAS leading to uncontrolled proliferation and differentiation of cells resulting in acute myeloid leukemia (AML). The study is conducted to determine the frequency of NRAS mutation and its prognostic significance in Pakistani AML patients. Peripheral blood samples were taken from 31 de novo AML ptients. Most of the patients in AML cohort were male (68%). In the present investigation, NRAS malformations in exon2 were analyzed for a cohort of 31 AML patients and correlated the results to teir cytogenetics, clinical and hematological parameters. The cohort under study was divided into two categories of age group: pediatric group (13%) and Adult group (87%). Two patients were observed to exhibit similar NRAS mutation in codon 63 and 68 which is reported for the first time in present study. Both the patients (6.45%) were adults showing insertion of one nucleotide basepair adenine (A) at position 319 (codon 63) causing frameshift in the subsequent amino acid sequence. One of them was observed to have another single basepair insertion of thymine (T) at position 336 while the other was detected to have a two basepair insertion of adenine and thymine (TA) at position 336 (codon 68) and 337 (codon 69) leading to the formation of a premature stop codon ending the amino acid translation. AML patients, INM5 and INM7 who manifested NRAS mutations were observed to have hemoglobin (Hb) level 5.4 or 8.5g/dL respectively. One mutant individual (INM5) was a female (cytogenetically abnormal) and was pregnant at the time of diagnosis. She was observed to have platelet count; 6.77× 109/L, total leucocyte count; 11× 109/L however the blast cells percentage was 13% (the general value to diagnosed AML is 20%). The male was observed to have platelet count; 11× 109/L, total leucocyte count; 4 × 109/L while the blast cell count was 26%. The mutant and non-mutant patients when compared in terms of hematological and clinical parameters a noteworthy correlation was found between blast cell percentage, white blood cell count, cytogenetic status which are the major parameters to detect AML.
650			_aZoology--Acute Myeloid--Leukemia--Patients--Pakistan
942			_cTH