الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
Acute leukemias are caused by heterogeneous genetic and epigenetic events that can occur at multiple levels during the dynamic progression from a premalignant state to frank leukemia. Acute myeloid leukemia (AML) is a genetically heterogeneous disease in which somatic mutations that disturb cellular growth, proliferation, and differentiation accumulate in hematopoietic progenitor cells. Tet methylcytosine dioxygenase 2 (TET2) gene mutations have recently been recognized in AML. TET2 mutations appeared to be an adverse prognostic indicator in both patients with cytogenetically normal.
The aim of this study was to detect the TET2 single nucleotide polymorphism (SNP rs 6843141) in AML.
Thirty one AML patients were enrolled in this study with a median age of 41years and male to female ratio 1:1 and 25 age and gender matched control group. Patients underwent thorough history taking, physical examination and routine investigations along with bone marrow aspirate, flow cytometery, cytogenetics, DNA extraction and Real time PCR for TET2 SNP polymorphism with an ABI Prism GeneAmp 7500 using peripheral blood c-25767872-10, rs 6843141, lot p161221-001 H07 PN*40.
TET2 polymorphism SNP rs 6843141 was commonly detected among AML cases with the majority showing homozygous pattern rather than heterozygous meanwhile control group was mostly wild type and heterozygous group p<0.001. Presence of TET2 polymorphism did not alter clinical presentation, extramedullary infiltration, CBC, bone marrow cellularity or cytogenetics, p>0.05. TET2 polymorphism showed higher bone marrow blast percentage among homozygous group, p=0.015. The frequency of TET2 polymorphism expression differs in different FAB subtypes. Homozygous expression was more common among M1, M2 meanwhile heterozygous expression was more frequent among M2, M5 p=0.02. TET2 polymorphism did not affect the outcome of treatment whether patients are in remission, refractory or relapse p>0.05. Mortality was not affected by TET2 polymorphism too, p>0.05. TET2 polymorphism in M1, M2 and M5 did not affect CBC parameters, bone marrow blast percentage, cytogenetics, outcome of treatment or mortality, p>0.05.
Further studies on larger scales are needed to determine the pattern of TET2 gene expression and its impact on treatment, o