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Deletion/duplication mutation screening of TP53 gene in patients with transitional cell carcinoma of urinary bladder
Mohammad Reza R Bazrafshani1, Pouriaali A Nowshadi2, Sadegh Shirian3,4,5
1Genetics Department, Kerman University of Medical Sciences, Kerman, Iran.
Abstract:
Bladder cancer is a molecular disease driven by the accumulation of genetic, epigenetic, and environmental factors. The aim of this study was to detect the deletions/duplication mutations in TP53 gene exons using multiplex ligation-dependent probe amplification (MLPA) method in the patients with transitional cell carcinoma (TCC). The achieved formalin-fixed paraffin-embedded tissues from 60 patients with TCC of bladder were screened for exonal deletions or duplications of every 12 TP53 gene exons using MLPA. The pathological sections were examined by three pathologists and categorized according to the WHO scoring guideline as 18 (30%) grade I, 22 (37%) grade II, 13 (22%) grade III, and 7 (11%) grade IV cases of TCC. None mutation changes of TP53 gene were detected in 24 (40%) of the patients. Furthermore, mutation changes including, 15 (25%) deletion, 17 (28%) duplication, and 4 (7%) both deletion and duplication cases were observed among 60 samples. From 12 exons of TP53 gene, exon 1 was more subjected to exonal deletion. Deletion of exon 1 of TP53 gene has occurred in 11 (35.4%) patients with TCC. In general, most mutations of TP53, either deletion or duplication, were found in exon 1, which was statistically significant. In addition, no relation between the TCC tumor grade and any type of mutation were observed in this research. MLPA is a simple and efficient method to analyze genomic deletions and duplications of all 12 exons of TP53 gene. The finding of this report that most of the mutations of TP53 occur in exon 1 is in contrast to that of the other reports suggesting that exons 5-8 are the most (frequently) mutated exons of TP53 gene. The mutations of exon 1 of TP53 gene may play an important role in the tumorogenesis of TCC.
Insights
TP53 gene mutations, specifically deletions and duplications in exon 1, are common in transitional cell carcinoma (TCC) of the bladder. Multiplex ligation-dependent probe amplification (MLPA) effectively detects these TP53 mutations in TCC.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Bladder cancer, or transitional cell carcinoma (TCC), is a complex molecular disease influenced by genetic and environmental factors.
- The TP53 gene is a critical tumor suppressor, and its mutations are implicated in various cancers, including bladder cancer.
Purpose of the Study:
- To investigate deletions and duplications in the TP53 gene's exons using the multiplex ligation-dependent probe amplification (MLPA) method.
- To analyze these mutations in patients diagnosed with transitional cell carcinoma (TCC) of the bladder.
Main Methods:
- Formalin-fixed paraffin-embedded tissues from 60 TCC patients were analyzed.
- Multiplex ligation-dependent probe amplification (MLPA) was employed to screen all 12 exons of the TP53 gene for deletions or duplications.
- Pathological sections were reviewed and graded according to WHO guidelines.
Main Results:
- TP53 gene mutations were detected in 60% of the TCC patients (36 out of 60).
- Deletions were observed in 25% of cases, duplications in 28%, and both in 7%.
- Exon 1 of the TP53 gene was most frequently affected by deletions (35.4% of patients with TCC) and overall mutations, a finding statistically significant and contrasting with other reports focusing on exons 5-8.
Conclusions:
- Multiplex ligation-dependent probe amplification (MLPA) is an effective method for detecting TP53 gene deletions and duplications in TCC.
- The frequent occurrence of TP53 mutations in exon 1 of TCC patients suggests a potentially crucial role in bladder cancer tumorigenesis.
- No correlation was found between TCC tumor grade and the observed TP53 mutations.
