Published online Aug 24, 2020. doi: 10.5306/wjco.v11.i8.614
Peer-review started: January 20, 2020
First decision: April 21, 2020
Revised: May 21, 2020
Accepted: July 1, 2020
Article in press: July 1, 2020
Published online: August 24, 2020
Processing time: 213 Days and 12.9 Hours
Mutational activation of Ras genes has been established as a prognostic factor for the genesis of a constitutively active RAS-mitogen activated protein kinase pathway that leads to cancer.
Due to the reported heterogeneity among the distribution of the most frequent mutations in Ras isoforms in different patient populations with urothelial carcinoma of the bladder (UCB), it is necessary to determine the presence/absence of mutations in order to predict disease outcome.
The present study was conducted to determine the mutational spectrum at the hotspot regions of H-Ras, K-Ras and N-Ras genes.
PCR-RFLP and direct DNA sequencing were employed to determine the presence or absence of mutations in the Ras isoforms and their clinical impact, if any, in 87 UCB patients.
None of the 87 UCB patients showed point mutations in codon 12 of H-Ras gene; codon 61 of N-Ras gene and codons 12, 13 of K-Ras gene by PCR-RFLP. Direct DNA sequencing of tumor and control bladder mucosal specimens followed by Blastn alignment with the reference wild-type sequences failed to identify even a single nucleotide difference in the coding exons 1 and 2 of H-Ras, N-Ras and K-Ras genes in the tumor and normal bladder mucosal specimens.
Our findings on the lack of mutations in H-Ras, K-Ras and N-Ras genes could be explained on the basis of different etiological mechanisms involved in tumor development/progression, inherent genetic susceptibility, and or tissue specificity in a given cohort of patients.
Gene amplification and/or overexpression of Ras could further explain an alternative mechanism of its dysfunction in Ras driven cancers.