AKT1 and PIK3CA activating mutations in Moroccan bladder cancer patients´ biopsies and matched urine
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Published on: March 29, 2019
Hajar El Ahanidi1,2, Meryem El Azzouzi1,2, Housna Arrouchi2
1Biology and Medical Research Unit, The National Center for Energy and Nuclear Science and Technology, Rabat, Morocco.
Introduction:
in cancer cells, activating mutations in PIK3CA and AKT1 genes, major players of PI3K-AKT-mTOR signalling pathway, are widely reported in many cancers and present attractive targets for the identification of new therapeutics and better cancer management. The present study was planned to evaluate the mutational status of PIK3CA and AKT1 genes in bladder cancer patients and to assess the association between these mutations and patients´ clinico-pathological features.
Methods:
in this prospective study, bladder cancer biopsies and matched urine sediments samples were collected form 70 patients. Mutations were assessed by deoxyribonucleic acid (DNA) sequencing and correlation with clinico-pathological data was performed using SPSS software.
Results:
AKT1 alterations were poorly detected. Only one patient with pT1 stage and high-grade tumour carried the E17K mutation. In PIK3CA exon 9, 2 point mutations, E545K and Q546E, and a SNP (E547E) were reported, whereas in exon 20, 2 point mutations (L989V and H1047R) and 2 SNPs (I1022I and T1025T) were detected. PIK3CA mutations were mainly observed in early stages and high-grade tumours. Statistical analysis showed no significant association between the studied AKT1 and PIK3CA mutations and patients´ clinico-pathological parameters (p > 0.05). Detection of these mutations in voided urine samples showed a high specificity (100%) for both genes and a moderate sensitivity: 100% for AKT1 and 66.7% for PIK3CA genes.
Conclusion:
this study shows clearly that mutations in AKT1 and PIK3CA are rare events and could not be considered as valuable biomarkers for bladder cancer management.
Insights
Activating mutations in PIK3CA and AKT1 genes are rare in bladder cancer and do not correlate with clinical features. Urine sample analysis showed high specificity but moderate sensitivity for detecting these rare PIK3CA and AKT1 gene mutations.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Activating mutations in PIK3CA and AKT1 genes are crucial in the PI3K-AKT-mTOR pathway and are frequently observed in various cancers.
- These mutations represent potential therapeutic targets for cancer management.
Purpose of the Study:
- To investigate the mutational status of PIK3CA and AKT1 genes in bladder cancer patients.
- To assess the association between these mutations and the clinico-pathological features of bladder cancer patients.
Main Methods:
- Prospective study involving 70 bladder cancer patients.
- Collection of tumor biopsies and matched urine sediments.
- DNA sequencing for mutation analysis and SPSS for statistical correlation.
Main Results:
- AKT1 alterations were detected in only one patient.
- PIK3CA mutations (point mutations and SNPs) were identified in exons 9 and 20.
- No significant association was found between PIK3CA/AKT1 mutations and clinico-pathological parameters.
- Urine sample analysis demonstrated high specificity (100%) for both genes and moderate sensitivity (100% for AKT1, 66.7% for PIK3CA).
Conclusions:
- Mutations in AKT1 and PIK3CA are infrequent in bladder cancer.
- These mutations are unlikely to serve as reliable biomarkers for bladder cancer management.
