Predictive Molecular Biomarkers of Bladder Cancer
Author Information
Author(s): Myszka Aleksander, Ciesla Marek, Siekierzynska Aleksandra, Sendera Anna, Constantinou Constantina, Karpinski Pawel, Wysiadecki Grzegorz, Balawender Krzysztof
Primary Institution: Institute of Medical Sciences, University of Rzeszow
Hypothesis
The study aimed to assess the impact of somatic mutations in bladder cancer on patient outcomes and tumour recurrence.
Conclusion
Mutations in the PIK3CA gene were identified as a predictive marker of a low risk of bladder tumour recurrence.
Supporting Evidence
- 81 variants were identified in 23 genes, including 54 pathogenic mutations.
- Mutations in the PIK3CA gene were associated with a significantly longer average tumour-free survival.
- 95% of tumours had pathogenic/likely pathogenic variants or variants of unknown significance.
Takeaway
This study found that certain changes in genes can help predict if bladder cancer will come back after treatment.
Methodology
Next-generation sequencing was used to screen somatic mutations in 50 genes in tumour-derived DNA from 46 patients with bladder cancer.
Limitations
The study had a small sample size, which may limit the generalizability of the findings.
Participant Demographics
The cohort consisted of 46 patients, predominantly male (96%), with a mean age of 69.6 years.
Statistical Information
P-Value
p = 0.02
Confidence Interval
95% CI: 0.11–0.62
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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