PMID- 35328276
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220329
IS  - 2075-4418 (Print)
IS  - 2075-4418 (Electronic)
IS  - 2075-4418 (Linking)
VI  - 12
IP  - 3
DP  - 2022 Mar 16
TI  - TP53 Expression and Mutational Analysis in Hematological Malignancy in Jeddah, 
      Saudi Arabia.
LID - 10.3390/diagnostics12030724 [doi]
LID - 724
AB  - 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.
FAU - Alkhatabi, Heba
AU  - Alkhatabi H
AD  - Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, 
      King Abdulaziz University, Jeddah 21589, Saudi Arabia.
AD  - Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz 
      University, Jeddah 80200, Saudi Arabia.
FAU - Yasin, Elrashed B
AU  - Yasin EB
AUID- ORCID: 0000-0002-4087-8112
AD  - Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, 
      King Abdulaziz University, Rabigh 25732, Saudi Arabia.
FAU - Mirza, Zeenat
AU  - Mirza Z
AD  - Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, 
      King Abdulaziz University, Jeddah 21589, Saudi Arabia.
AD  - King Fahd Medical Research Center, King Abdulaziz University, Jeddah 21589, Saudi 
      Arabia.
FAU - Alserihi, Raed
AU  - Alserihi R
AUID- ORCID: 0000-0001-7152-5099
AD  - Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, 
      King Abdulaziz University, Jeddah 21589, Saudi Arabia.
AD  - Center of Innovation in Personalized Medicine (CIPM), King Abdulaziz University, 
      Jeddah 21589, Saudi Arabia.
FAU - Felimban, Raed
AU  - Felimban R
AUID- ORCID: 0000-0002-0853-2162
AD  - Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, 
      King Abdulaziz University, Jeddah 21589, Saudi Arabia.
AD  - Center of Innovation in Personalized Medicine (CIPM), King Abdulaziz University, 
      Jeddah 21589, Saudi Arabia.
FAU - Elaimi, Aisha
AU  - Elaimi A
AUID- ORCID: 0000-0003-3214-4714
AD  - Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, 
      King Abdulaziz University, Jeddah 21589, Saudi Arabia.
AD  - Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz 
      University, Jeddah 80200, Saudi Arabia.
FAU - Shaabad, Manal
AU  - Shaabad M
AD  - Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz 
      University, Jeddah 80200, Saudi Arabia.
FAU - Alharbi, Lina
AU  - Alharbi L
AD  - Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz 
      University, Jeddah 80200, Saudi Arabia.
FAU - Ahmed, Hameeda
AU  - Ahmed H
AD  - Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz 
      University, Jeddah 80200, Saudi Arabia.
FAU - Alameer, Abdulrahman M
AU  - Alameer AM
AUID- ORCID: 0000-0003-2755-7354
AD  - Sabya General Hospital, Jazan 82511, Saudi Arabia.
FAU - Mathkoor, Abdullah Ebraheem
AU  - Mathkoor AE
AD  - Jazan Armed Forces Hospital, Jazan 82511, Saudi Arabia.
FAU - Barefah, Ahmed Salleh
AU  - Barefah AS
AD  - Hematology Department, Faculty of Medicine, King Abdulaziz University, Jeddah 
      21589, Saudi Arabia.
AD  - Hematology Research Unit, King Fahad Research Center, King Abdulaziz University, 
      Jeddah 21589, Saudi Arabia.
LA  - eng
PT  - Journal Article
DEP - 20220316
PL  - Switzerland
TA  - Diagnostics (Basel)
JT  - Diagnostics (Basel, Switzerland)
JID - 101658402
PMC - PMC8946951
OTO - NOTNLM
OT  - FISH
OT  - TP53 deletion
OT  - TP53 mutation
OT  - hematological malignancies
OT  - myelodysplastic syndromes
COIS- The authors declare no conflict of interest.
EDAT- 2022/03/26 06:00
MHDA- 2022/03/26 06:01
PMCR- 2022/03/16
CRDT- 2022/03/25 01:06
PHST- 2022/01/26 00:00 [received]
PHST- 2022/03/03 00:00 [revised]
PHST- 2022/03/06 00:00 [accepted]
PHST- 2022/03/25 01:06 [entrez]
PHST- 2022/03/26 06:00 [pubmed]
PHST- 2022/03/26 06:01 [medline]
PHST- 2022/03/16 00:00 [pmc-release]
AID - diagnostics12030724 [pii]
AID - diagnostics-12-00724 [pii]
AID - 10.3390/diagnostics12030724 [doi]
PST - epublish
SO  - Diagnostics (Basel). 2022 Mar 16;12(3):724. doi: 10.3390/diagnostics12030724.