Sanguedolce Francesca, Cormio Angelo, Zanelli Magda, Zizzo Maurizio, Palicelli Andrea, Falagario Ugo Giovanni, Milanese Giulio, Galosi Andrea Benedetto, Mazzucchelli Roberta, Cormio Luigi, Carrieri Giuseppe
Pathology Unit, Policlinico Foggia, University of Foggia, 71122 Foggia, Italy.
Department of Urology, Azienda Ospedaliero-Universitaria Ospedali Riuniti Di Ancona, Università Politecnica Delle Marche, Via Conca 71, 60126 Ancona, Italy.
Diagnostics (Basel). 2025 Aug 26;15(17):2163. doi: 10.3390/diagnostics15172163.
Urothelial carcinoma in situ (UCIS) is a high-grade non-muscle-invasive neoplasm with significant clinical implications due to its potential for progression to muscle-invasive disease. Accurate diagnosis and risk stratification are crucial for appropriate management, particularly given the variability in response to intravesical Bacillus Calmette-Guérin (BCG) therapy. While the diagnosis of UCIS primarily relies on morphological criteria, immunohistochemical (IHC) markers serve as valuable ancillary tools, particularly in challenging cases. Markers such as CK20, CD44, p53, and Ki-67 have been extensively studied, though none demonstrate complete sensitivity or specificity. Additionally, molecular classification has identified luminal and basal subtypes, with potential prognostic and therapeutic implications. Recent studies have also explored predictive biomarkers for BCG response, including PD-L1, whose expression correlates with recurrence and potential responsiveness to immune checkpoint inhibitors. Emerging targeted therapies, such as enfortumab vedotin, have shown promise, with nectin-4 overexpression observed in most UCIS cases. Despite these advancements, challenges remain, including interobserver variability in morphological assessment, heterogeneous IHC methodologies, and the need for standardized molecular testing. This review highlights the current understanding of diagnostic, prognostic, and predictive tissue biomarkers in UCIS, underscoring the potential role of molecular profiling in guiding personalized treatment strategies. Future research should focus on refining biomarker-driven classification systems to improve risk stratification and therapeutic decision-making in UCIS patients.
原位尿路上皮癌(UCIS)是一种高级别非肌层浸润性肿瘤,因其有进展为肌层浸润性疾病的可能性而具有重要的临床意义。准确的诊断和风险分层对于恰当的治疗管理至关重要,尤其是考虑到膀胱内卡介苗(BCG)治疗反应的变异性。虽然UCIS的诊断主要依赖形态学标准,但免疫组化(IHC)标志物是有价值的辅助工具,特别是在具有挑战性的病例中。诸如细胞角蛋白20(CK20)、CD44、p53和Ki-67等标志物已得到广泛研究,不过没有一个显示出完全的敏感性或特异性。此外,分子分类已确定了管腔型和基底型亚型,具有潜在的预后和治疗意义。最近的研究还探索了卡介苗反应的预测生物标志物,包括程序性死亡受体配体1(PD-L1),其表达与复发以及对免疫检查点抑制剂的潜在反应性相关。新兴的靶向治疗,如恩杂鲁胺,已显示出前景,在大多数UCIS病例中观察到NECTIN-4过表达。尽管有这些进展,但挑战仍然存在,包括形态学评估中的观察者间差异、免疫组化方法的异质性以及对标准化分子检测的需求。本综述强调了目前对UCIS诊断、预后和预测性组织生物标志物的理解,强调了分子谱分析在指导个性化治疗策略中的潜在作用。未来的研究应专注于完善生物标志物驱动的分类系统,以改善UCIS患者的风险分层和治疗决策。