Detection of KRAS Exon 2 mutations and their prognostic relevance in acute Myeloid Leukemia (AML) patients from Pakistan / Wajiha Asif
Material type: TextPublication details: Lahore : Division of Science & Technology, University of Education, 2019Description: ix, 63 p. CDISBN:- hbk
- 591 D4803
Item type | Current library | Call number | Status | Date due | Barcode | |
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Theses | UE-Central Library | 591 D4803 (Browse shelf(Opens below)) | Not for loan | TTH177 |
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Acute myeloid leukemia (AML) is the second most common type of leukemia. AML is the
predominant form constituting 80% of leukemia cases in neonatal and adult periods however
represents a small fraction around 15 to 20% of cases during infancy and adolescence. AML is
clinically heterogeneous disease characterized by a multitude of chromosomal abnormalities and
molecular genetic aberrations. Kirsten rat sarcoma viral oncogene homolog (KRAS) plays an
important role in pathogenesis of acute myeloid leukemia (AML). The activated mutations in
KRAS exon 2 confers proliferative and survival signals, deliberating numerous effect on overall
survival and progression free survival in AML patients. In this study thirty one (31) blood
samples of adult AML patients were collected to detect the prevalence of mutation through
amplification of KRAS gene exon 2 using polymerase chain reaction (PCR). Amplicon was
processed for to gene sequencing and later on was analyzed using Bioinformatics tool Geneious
Prime 2019. The association of clinical and hematological parameters of AML patients were also
thoroughly studied with the French–American–British (FAB) subtypes to understand any
relevance of this classification with hemato-clinical parameters. All the studied AML samples
harbor wild type of KRAS exon 2 with no point mutation, deletion, inversion, insertion. In
addition there was no statistically significant association of FAB subtypes of AML patients with
prognostic markers including age, gender, karyotyping, CD34 positivity, cytogenetic
abnormalities, complete blood count (RBCs, TCLS and WBCs), percentage of blast cells and
presence and absence of KRAS mutations. The prevalence of KRAS exon 2 mutations in
correlation with clinical and hematological parameter is useful for risk stratification in AML
patients. However, they are very rarely present in de novo, therapy related or secondary AML
cases.
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