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<p>Bladder cancer (BC) displays a huge phenotypic variation and widespread clinical outcomes, attributed to the high mutational heterogeneity of the disease. Mutational landscaping became integral to cancer patient management as it unveils driver genes and yields genotype–phenotype associations. This study aims to identify somatic mutations, their frequencies and their associations with clinical and prognostic outcomes in BC. Eighty-one BC patients were analyzed by next-generation sequencing using the Ion AmpliSeq Cancer Hotspots Panel v2. Bioinformatics analysis, correlation studies and Kaplan–Meier curve were used to evaluate the relationship between genes’ mutational status and patients’ clinical parameters and outcomes. Our results indicated that the BC cohort exhibited a higher mutation burden than the TCGA data. Mutations were identified in 46 out of 50 genes, including 21 novel mutations not previously reported in BC. The <i>TP53</i> gene was mutated in 82.5% of the analyzed cohort, followed by <i>PIK3 CA</i> (45%), <i>FGFR3</i> (43.75%) and <i>APC</i> (35%). <i>TP53</i> mutations were associated with poor survival (<i>p</i> = <i>0.003</i>) while the <i>FGFR3</i> mutation group exhibited signs of good prognosis (<i>p</i> = <i>0.018</i>). Bioinformatics highlighted significant gene interactions associated with poor prognosis. These findings underline the importance of identifying novel genetic mutations that could significantly improve prognostic stratification and expand therapeutic options for managing BC patients.</p>

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Clinical relevance of the somatic mutational landscaping in predicting outcome of bladder cancer patients

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月2日

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  • Taoufik Nedjadi,
  • Ansari Hifzur,
  • Muhammad A. Khan,
  • Naif Sannan,
  • Mubarak Al-Mansour,
  • Jaudah Al-Maghrabi,
  • Ashraf Dallol

摘要

Bladder cancer (BC) displays a huge phenotypic variation and widespread clinical outcomes, attributed to the high mutational heterogeneity of the disease. Mutational landscaping became integral to cancer patient management as it unveils driver genes and yields genotype–phenotype associations. This study aims to identify somatic mutations, their frequencies and their associations with clinical and prognostic outcomes in BC. Eighty-one BC patients were analyzed by next-generation sequencing using the Ion AmpliSeq Cancer Hotspots Panel v2. Bioinformatics analysis, correlation studies and Kaplan–Meier curve were used to evaluate the relationship between genes’ mutational status and patients’ clinical parameters and outcomes. Our results indicated that the BC cohort exhibited a higher mutation burden than the TCGA data. Mutations were identified in 46 out of 50 genes, including 21 novel mutations not previously reported in BC. The TP53 gene was mutated in 82.5% of the analyzed cohort, followed by PIK3 CA (45%), FGFR3 (43.75%) and APC (35%). TP53 mutations were associated with poor survival (p = 0.003) while the FGFR3 mutation group exhibited signs of good prognosis (p = 0.018). Bioinformatics highlighted significant gene interactions associated with poor prognosis. These findings underline the importance of identifying novel genetic mutations that could significantly improve prognostic stratification and expand therapeutic options for managing BC patients.