Detection P53 Gene Deletion in Hematological Malignancies Using Fluorescence In situ Hybridization: A Pilot Study

Annooz, Aaedah F; Melconian, Alice K.; Abdul–Majeed, Ban A.; Jawad, Ali M.

doi:10.3923/pjbs.2014.891.897

Cited by 2 publications

(2 citation statements)

References 11 publications

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“…TP53 deletion was identi ed in about 62.5% of all investigated child samples, whereas the deletion was detected at a lower rate (16%) of adult cases. Furthermore, the highest average of TP53 deletion has been noticed in patients with ALL (55%), which is in concordance with and even higher than what was reported by other studies (56%) 45 .…”

Section: Discussionsupporting

confidence: 91%

Evaluation of TP53 Expression and Mutations among Hematological Malignancies Patients in Saudi Arabia

Alkhatabi

Yasin

Alserihi

et al. 2021

Preprint

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Tumor protein 53 (TP53) is the most frequently mutated gene in human cancer which located on the short arm of chromosome 17. 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. However, no data on the prevalence and prognostic value of TP53 mutations and the significance of TP53 deletion among hematological malignancies in Saudi patients. The objective of this study was to evaluate the frequency and prognostic significance of TP53 mutations in different hematological malignancies in Jeddah, Saudi Arabia. 20 samples from different hematological malignancies were tested using a next-generation sequencing (NGS) and targeted panel for TP53 deletion using fluorescence in situ hybridization (FISH) and TP53 mutations. Based on the application of the FISH technique, 6 out of 20 patients showed a deletion in TP53 majority of them were Acute lymphoplastic leukemia (ALL), and the deletion was prominent in a child compared to an adult. Furthermore, the result of next-generation sequencing on 10 selected samples showed that 1 out of 10 samples had a heterozygous mutation at codon 175 (exon 5) of the TP53 gene, replacing histidine with arginine (H175R). Also, there were 90 other mutations detected on 13 genes that were sequenced besides TP53. None of the other gene mutations showed any clinical impact or association with TP53 except for two mutations in two different genes; ASXL1 (K1368T) and SETBP1 (V231L). Despite the small size of this study, the identified mutations are considered variants with unknown significance and need further validation and investigation on a larger cohort to determine the pathogenicity of these abnormalities. This study recommends further analysis of genomic mutations, utilizing high throughput technologies, associated with hematological malignancies in Saudi populations.

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Section: Discussionsupporting

confidence: 91%

Evaluation of TP53 Expression and Mutations among Hematological Malignancies Patients in Saudi Arabia

Alkhatabi

Yasin

Alserihi

et al. 2021

Preprint

View full text Add to dashboard Cite

show abstract

“…This study showed that, TP53 deletion was identified in about 62.5% of all investigated child samples, whereas the deletion was detected at a lower rate (16%) of adult cases. Furthermore, the highest average of TP53 deletion has been noticed in patients with ALL (55%), which is in concordance with and even higher than what was reported by other studies (56%) [46]. TP53 changes were mainly seen in a hypodiploid subtype of ALL, mainly due to germline changes, which changed the disease manifestation to Li-Fraumeni syndrome.…”

Section: Discussionsupporting

confidence: 88%

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

et al. 2022

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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.

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Detection P53 Gene Deletion in Hematological Malignancies Using Fluorescence In situ Hybridization: A Pilot Study

Cited by 2 publications

References 11 publications

Evaluation of TP53 Expression and Mutations among Hematological Malignancies Patients in Saudi Arabia

Evaluation of TP53 Expression and Mutations among Hematological Malignancies Patients in Saudi Arabia

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

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