Document Details

Document Type : Thesis 
Document Title :
INVESTIGATION OF IDH1/2 MUTATIONS IN PATIENTS WITH LEUKEMIA COMPARED WITH THE IDH1/2 MUTATIONS IN GLIOMA PATIENTS
البحث عن الطفرات الوراثية في جينات IDH1/2 في مرضى سرطان الدم ومقارنة النتائج مع الطفرات الوراثية لنفس الجينات في مرضى ورم الدماغ
 
Subject : Faculty of Applied Medical Sciences 
Document Language : Arabic 
Abstract : Introduction. Different forms of human cancer show mutations for isocitrate dehydrogenases 1 and 2 (IDH1/2) genes. The alterations mainly occur in cytogenetically normal acute myeloid leukemia (AML), resulting in over-generation of an oncometabolite, D-2-hydroxyglutarate (D-2-HG). Besides, the most prevalent IDH1/2 mutation in glioma is glioblastoma (GBM). Aim of the Study. The study aims at identifying the prevalence of IDH1/2 mutation in AML. Furthermore, the report describes the association of the mutations with their clinical implication in disease prognosis. Moreover,the differences of IDH1/2 mutations in leukemia patients compared to those with glioma will be investigates. Subjects and Methods: The research entails 27 DNA samples derived from bone marrows of AML patients. In the case of glioma, IDH1/2 mutation-related details were acquired from the Center of Excellence in Genomic Research (CEGMR) and were based on a previous study performed at the center. The alteration hotspots in codon IDH-R132 and IDH-R172 on Exon 4 are examined via sequencing. Clinical data of patients were taken and utilized in the analysis. The findings on leukemia-related mutations were compared with the mutation results of similar genes on glioma patients from the provided information. Results. Mutation in IDH1 gene was detected in 6 out of 27 (22%) AML patients, 4 of them (14.8%) occur at codon 132. The other two mutations include single nucleotide polymorphism (rs11554137) which affect codon G105 in one patient and another synonymous mutations (rs767243751) affecting codon R135 was detected in a separate sample. However, there is no mutation detected on IDH2 gene. The connection between AML and glioma in terms of IDH1/2 mutation was studied. Lastly, cytogenetic effects and molecular screening were conducted. The predominance of IDH1 in AML was approximately 22%, while in glioma it was 78%. Conclusion and Recommendations. While the present study comprised of a small sample size, the findings indicate that IDH1 is a potential target in AML diagnosis. 
Supervisor : Dr. Heba Alkhatabi 
Thesis Type : Master Thesis 
Publishing Year : 1441 AH
2019 AD 
Added Date : Wednesday, November 13, 2019 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
حنين عبد الفتاح صديقSaddeq, Haneen AbdulfattahResearcherMaster 

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