S4H Bladder Cancer: Identifying a Genetic Signature that Predicts Progression to Invasive Urothelial CarcinomaÂ
Standing
Undergraduate
Type of Proposal
Oral Research Presentation
Challenges Theme
Open Challenge
Faculty Sponsor
Dr. Sindu Kanjeekal
Proposal
Background: Over 8900 Canadians are diagnosed with bladder cancer every year, ranking it the fifth most frequent cancer. It can manifest as either non-muscle invasive bladder cancer (NMIBC) or muscle invasive bladder cancer (MIBC). The majority of patients initially receive a diagnosis of NMIBC, although high-grade NMIBC has a 50–70% recurrence rate and 10–30% chance at progressing to MIBC. The transition from high-grade NMIBC to MIBC is poorly understood, and there are no biomarkers that predict disease progression. We propose a comprehensive molecular characterization to pinpoint specific mutations, and hence define the molecular development. Methods: 25 bladder cancer patient samples were obtained from Windsor Regional Hospital and classified into two cohorts; NMIBC and MIBC patient samples. Genomic extraction was performed, and comprehensive targeted sequencing was performed using TSO500 gene panel from illumina. Data was transferred with ancillary files to Illumina Connected Analytics cloud services for analysis using DRAGEN TSO500 v-1-1-1 Analysis Software.Results: Preliminary data from this study found MIBC to have a higher tumour mutation burden across STAR samples and in all samples. An oncoplot has been made with downstream analysis of non-synonymous mutations with sequencing depth > 200, and allele frequency >5%. It has also been demonstrated through histogram application that allele frequencies have similar trends depending on the pathological properties of the samples. Conclusions: Taken together, these findings provide insight to the pathogenesis of MIBC. The potential to identify 'genomic triggers' for the transition was facilitated by creating a genetic profile at these stages.
Grand Challenges
Viable, Healthy and Safe Communities
S4H Bladder Cancer: Identifying a Genetic Signature that Predicts Progression to Invasive Urothelial CarcinomaÂ
Background: Over 8900 Canadians are diagnosed with bladder cancer every year, ranking it the fifth most frequent cancer. It can manifest as either non-muscle invasive bladder cancer (NMIBC) or muscle invasive bladder cancer (MIBC). The majority of patients initially receive a diagnosis of NMIBC, although high-grade NMIBC has a 50–70% recurrence rate and 10–30% chance at progressing to MIBC. The transition from high-grade NMIBC to MIBC is poorly understood, and there are no biomarkers that predict disease progression. We propose a comprehensive molecular characterization to pinpoint specific mutations, and hence define the molecular development. Methods: 25 bladder cancer patient samples were obtained from Windsor Regional Hospital and classified into two cohorts; NMIBC and MIBC patient samples. Genomic extraction was performed, and comprehensive targeted sequencing was performed using TSO500 gene panel from illumina. Data was transferred with ancillary files to Illumina Connected Analytics cloud services for analysis using DRAGEN TSO500 v-1-1-1 Analysis Software.Results: Preliminary data from this study found MIBC to have a higher tumour mutation burden across STAR samples and in all samples. An oncoplot has been made with downstream analysis of non-synonymous mutations with sequencing depth > 200, and allele frequency >5%. It has also been demonstrated through histogram application that allele frequencies have similar trends depending on the pathological properties of the samples. Conclusions: Taken together, these findings provide insight to the pathogenesis of MIBC. The potential to identify 'genomic triggers' for the transition was facilitated by creating a genetic profile at these stages.