Scholarlink

Next-generation sequencing (NGS) has transformed urological cancer classification from morphology-based to molecularly-informed diagnosis. This chapter provides an overview of NGS application in renal cell carcinoma (RCC), bladder cancer, and prostate cancer highlighting key molecular events and diagnostic integration. In RCC, more than 20 distinct molecular subtypes are now recognized. Alterations in the VHL–HIF pathway, defects in chromatin remodeling genes (PBRM1, BAP1, SETD2), and metabolic reprogramming delineate distinct prognostic groups and therapeutic vulnerabilities. Bladder cancer can be stratified into six consensus molecular subtypes, each associated with differing therapeutic responses. In prostate cancer, homologous recombination repair defects, particularly BRCA1/2 mutations, enable PARP inhibitor selection in metastatic castration-resistant disease. Liquid biopsy provides non-invasive monitoring across all three malignancies. Current challenges include cost, intratumoral heterogeneity, and lack of standardization. However, NGS integrated with immunohistochemistry improves diagnostic accuracy, identifies hereditary syndromes, predicts therapeutic response, and monitors resistance. As clinically actionable targets and validated biomarkers continue to expand, NGS is expected to become routine in diagnostic practice, reshaping patient management in urological oncology.

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Next-Generation Sequencing in Kidney, Bladder, and Prostate Pathology

  • 章节

  • 发表日期：

    2026年

查看全文
  • Stefano Sioletic,
  • Alessia Cimadamore,
  • Elisa Melucci,
  • Giuseppe Simone

摘要

Next-generation sequencing (NGS) has transformed urological cancer classification from morphology-based to molecularly-informed diagnosis. This chapter provides an overview of NGS application in renal cell carcinoma (RCC), bladder cancer, and prostate cancer highlighting key molecular events and diagnostic integration. In RCC, more than 20 distinct molecular subtypes are now recognized. Alterations in the VHL–HIF pathway, defects in chromatin remodeling genes (PBRM1, BAP1, SETD2), and metabolic reprogramming delineate distinct prognostic groups and therapeutic vulnerabilities. Bladder cancer can be stratified into six consensus molecular subtypes, each associated with differing therapeutic responses. In prostate cancer, homologous recombination repair defects, particularly BRCA1/2 mutations, enable PARP inhibitor selection in metastatic castration-resistant disease. Liquid biopsy provides non-invasive monitoring across all three malignancies. Current challenges include cost, intratumoral heterogeneity, and lack of standardization. However, NGS integrated with immunohistochemistry improves diagnostic accuracy, identifies hereditary syndromes, predicts therapeutic response, and monitors resistance. As clinically actionable targets and validated biomarkers continue to expand, NGS is expected to become routine in diagnostic practice, reshaping patient management in urological oncology.