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Volume 12
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10.3390/diagnostics12030724
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Article

TP53 Expression and Mutational Analysis in Hematological Malignancy in Jeddah, Saudi Arabia

by
Heba Alkhatabi
1,2,
Elrashed B. Yasin
3,*,
Zeenat Mirza
1,4,
Raed Alserihi
1,5,
Raed Felimban
1,5,
Aisha Elaimi
1,2,
Manal Shaabad
2,
Lina Alharbi
2,
Hameeda Ahmed
2,
Abdulrahman M. Alameer
6,
Abdullah Ebraheem Mathkoor
7 and
Ahmed Salleh Barefah
8,9
1
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia
2
Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah 80200, Saudi Arabia
3
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Rabigh 25732, Saudi Arabia
4
King Fahd Medical Research Center, King Abdulaziz University, Jeddah 21589, Saudi Arabia
5
Center of Innovation in Personalized Medicine (CIPM), King Abdulaziz University, Jeddah 21589, Saudi Arabia
6
Sabya General Hospital, Jazan 82511, Saudi Arabia
7
Jazan Armed Forces Hospital, Jazan 82511, Saudi Arabia
8
Hematology Department, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia
9
Hematology Research Unit, King Fahad Research Center, King Abdulaziz University, Jeddah 21589, Saudi Arabia
*
Author to whom correspondence should be addressed.
Diagnostics 2022, 12(3), 724; https://doi.org/10.3390/diagnostics12030724
Submission received: 26 January 2022 / Revised: 3 March 2022 / Accepted: 6 March 2022 / Published: 16 March 2022
(This article belongs to the Section Pathology and Molecular Diagnostics)
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Abstract

Background: Tumor protein 53 (TP53) is a tumor-suppressor gene and plays an essential role in apoptosis, cell cycle arrest, genomic stability, and DNA repair. Although it is the most often mutated gene in human cancer, it has respectively low frequency in hematological malignancy but is significantly linked with complex karyotype, poor prognosis, and chemotherapeutic response. Nevertheless, the prevalence and prognostic role of TP53 mutations in hematological malignancy in Saudi patients are not well reported. We, therefore, aim to assess the frequency of TP53 mutations in hematological malignancies in Saudi Arabia. Method: 20 different hematological malignancy samples were tested using fluorescence in situ hybridization (FISH) technique for TP53 deletion detection and next-generation sequencing (NGS) targeted panel was applied on 10 samples for mutations identification specifically TP53 mutation. Results: TP53 deletion was detected in 6 of 20 samples by FISH. Most of the 6 patients with TP53 deletion had acute lymphoblastic leukemia (ALL), and majority of them were child. NGS result revealed one heterozygous missense mutation in exon 5 of the TP53 gene (c. G9963A, p.H175R). Conclusion: To the best of our knowledge, the TP53 mutation is novel variant, and the first time we are reporting their association with myelodysplastic syndromic individual with complex karyotype. This study recommends further analysis of genomic mutations on bigger cohorts, utilizing high throughput technologies.
Keywords: TP53 mutation; hematological malignancies; TP53 deletion; myelodysplastic syndromes; FISH TP53 mutation; hematological malignancies; TP53 deletion; myelodysplastic syndromes; FISH

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MDPI and ACS Style

Alkhatabi, H.; Yasin, E.B.; Mirza, Z.; Alserihi, R.; Felimban, R.; Elaimi, A.; Shaabad, M.; Alharbi, L.; Ahmed, H.; Alameer, A.M.; et al. TP53 Expression and Mutational Analysis in Hematological Malignancy in Jeddah, Saudi Arabia. Diagnostics 2022, 12, 724. https://doi.org/10.3390/diagnostics12030724

AMA Style

Alkhatabi H, Yasin EB, Mirza Z, Alserihi R, Felimban R, Elaimi A, Shaabad M, Alharbi L, Ahmed H, Alameer AM, et al. TP53 Expression and Mutational Analysis in Hematological Malignancy in Jeddah, Saudi Arabia. Diagnostics. 2022; 12(3):724. https://doi.org/10.3390/diagnostics12030724

Chicago/Turabian Style

Alkhatabi, Heba, Elrashed B. Yasin, Zeenat Mirza, Raed Alserihi, Raed Felimban, Aisha Elaimi, Manal Shaabad, Lina Alharbi, Hameeda Ahmed, Abdulrahman M. Alameer, and et al. 2022. "TP53 Expression and Mutational Analysis in Hematological Malignancy in Jeddah, Saudi Arabia" Diagnostics 12, no. 3: 724. https://doi.org/10.3390/diagnostics12030724

APA Style

Alkhatabi, H., Yasin, E. B., Mirza, Z., Alserihi, R., Felimban, R., Elaimi, A., Shaabad, M., Alharbi, L., Ahmed, H., Alameer, A. M., Mathkoor, A. E., & Barefah, A. S. (2022). TP53 Expression and Mutational Analysis in Hematological Malignancy in Jeddah, Saudi Arabia. Diagnostics, 12(3), 724. https://doi.org/10.3390/diagnostics12030724

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