Indentification of N-RAS Exon 2 mutations and their prognostic importance in acute myeloid leukemia (AML) patients from Pakistan (Record no. 21873)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03224nam a22001697a 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20221018170337.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 221018b ||||| |||| 00| 0 eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | hbk |
| 082 ## - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 591 |
| Item number | Id26 |
| 100 ## - MAIN ENTRY--PERSONAL NAME | |
| Student name | Erum Zafar, |
| Class | BS Zoology, |
| Session | 2015-2019, |
| Supervisor | Supervised by Dr.Afifa M. Akram |
| 245 ## - TITLE STATEMENT | |
| Title | Indentification of N-RAS Exon 2 mutations and their prognostic importance in acute myeloid leukemia (AML) patients from Pakistan |
| Statement of responsibility, etc | / Erum Zafar |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) | |
| Place of publication, distribution, etc | Lahore : |
| Name of publisher, distributor, etc | Division of Science & Technology, University of Education, |
| Date of publication, distribution, etc | 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | xvi, 67 p. |
| Accompanying material | CD |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc | Leukemia is an uncontrolled growth of blood cells. This uncontrolled cell division<br/>occurs due to the mutation occurring in proto-oncogenes such as NRAS, c-kit, FLT3,<br/>NPM1, KRAS etc in either myeloid or lymphocytic lineages. When the NRAS is in<br/>active state it stimulate a cascade of intracellular pathway leading to normal cell<br/>division and proliferation. However, the mutations in NRAS gene causes a prolonged<br/>or sustained activation of NRAS leading to uncontrolled proliferation and<br/>differentiation of cells resulting in acute myeloid leukemia (AML). The study is<br/>conducted to determine the frequency of NRAS mutation and its prognostic<br/>significance in Pakistani AML patients. Peripheral blood samples were taken from 31<br/>de novo AML ptients. Most of the patients in AML cohort were male (68%). In the<br/>present investigation, NRAS malformations in exon2 were analyzed for a cohort of 31<br/>AML patients and correlated the results to teir cytogenetics, clinical and hematological<br/>parameters. The cohort under study was divided into two categories of age group:<br/>pediatric group (13%) and Adult group (87%). Two patients were observed to exhibit<br/>similar NRAS mutation in codon 63 and 68 which is reported for the first time in present<br/>study. Both the patients (6.45%) were adults showing insertion of one nucleotide<br/>basepair adenine (A) at position 319 (codon 63) causing frameshift in the subsequent<br/>amino acid sequence. One of them was observed to have another single basepair<br/>insertion of thymine (T) at position 336 while the other was detected to have a two<br/>basepair insertion of adenine and thymine (TA) at position 336 (codon 68) and 337<br/>(codon 69) leading to the formation of a premature stop codon ending the amino acid<br/>translation. AML patients, INM5 and INM7 who manifested NRAS mutations were<br/>observed to have hemoglobin (Hb) level 5.4 or 8.5g/dL respectively. One mutant<br/>individual (INM5) was a female (cytogenetically abnormal) and was pregnant at the<br/>time of diagnosis. She was observed to have platelet count; 6.77× 109/L, total leucocyte<br/>count; 11× 109/L however the blast cells percentage was 13% (the general value to<br/>diagnosed AML is 20%). The male was observed to have platelet count; 11× 109/L,<br/>total leucocyte count; 4 × 109/L while the blast cell count was 26%. The mutant and<br/>non-mutant patients when compared in terms of hematological and clinical parameters<br/>a noteworthy correlation was found between blast cell percentage, white blood cell<br/>count, cytogenetic status which are the major parameters to detect AML. |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Zoology--Acute Myeloid--Leukemia--Patients--Pakistan |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | Theses |
| Withdrawn status | Damaged status | Home library | Current library | Date acquired | Full call number | Barcode | Date last seen | Price effective from | Koha item type |
|---|---|---|---|---|---|---|---|---|---|
| UE-Central Library | UE-Central Library | 18.10.2022 | 591 Id26 | TTH183 | 18.10.2022 | 18.10.2022 | Theses |
