Document Details

Document Type : Thesis 
Document Title :
EVALUATION OF TP53 MUTATIONS AMONG HEMATOLOGICAL MALIGNANCIES PATIENTS IN JEDDAH, SAUDI ARABIA
تقيم طفرات البروتين 53 في مرضى الأورام الدموية الخبيثة بجدة، المملكة العربية السعودية
 
Subject : Faculty of Applied Medical Sciences 
Document Language : Arabic 
Abstract : Tumor protein 53 is the most frequently mutated gene in human cancer. TP53 gene is located on the short arm of chromosome 17 and encodes for TP53 protein, which plays a significant role in many cellular processes such as apoptosis, cell cycle arrest, genomic stability, and DNA repair. In hematological malignancies, the prevalence of TP53 mutations is low compared to other tumors but associated with a complex karyotype, poor prognosis and poor response to chemotherapy. Due to the lack of data in the prevalence and prognostic value of TP53 mutations among hematological malignancies in Saudi patients, we aimed in this study to evaluate the frequency and prognostic significance of TP53 mutations in different hematological malignancies in Jeddah, Saudi Arabia. Method: 10 samples from different hematological malignancies were tested for TP53 mutations using a next-generation platform. Results: 1 out of 10 samples had a heterozygous mutation at codon 175 (exon 5) of the TP53 gene which replaces histidine with arginine (H175R). Also, there were 90 other mutations detected on 13 genes that were sequenced beside TP53. None of the other genes mutations had shown any clinical impact or association with TP53 except for two mutations in two different genes; ASXL1 (K1368T) and SETBP1 (V231L). The TP53 and ASXL1 mutations are novel variants which not reported before neither on association with case phenotype (MDS patient and associated with a complex karyotype) nor other hematological or oncology associated diseases. Conclusion: Despite the small size of this study, the identified mutations considered as variants with unknown significance and need further validation and investigation on a larger cohort to identify the pathogenicity of theses abnormality. This study recommends further investigation of genomic mutations, utilizing high throughput technologies, associated with hematological malignancies in Saudi populations 
Supervisor : Dr. Heba Alkhatabi 
Thesis Type : Master Thesis 
Publishing Year : 1442 AH
2020 AD 
Added Date : Sunday, August 23, 2020 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
عبدالرحمن مهدي الاميرAl-Ameer, Abdulrahman MahdiResearcherMaster 

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