PDF(Pubmed)
Abstract：
High-grade renal cell carcinoma (RCC), often diagnosed at advanced stages, significantly contributes to renal cancer-related mortality. This review explores the progress in understanding specific subtypes of high-grade RCC, namely fumarate hydratase (FH)-deficient RCC, anaplastic lymphoma kinase (ALK)-rearranged RCC, and SMARCB1-deficient renal medullary carcinoma, all of which are now recognized as molecularly defined entities in the WHO classification system (2022). While these entities each exhibit a morphologic spectrum that overlaps with other high-grade RCC, ancillary tools developed based on their distinctive molecular alterations can help establish a specific diagnosis, underscoring the importance of integrating molecular findings into diagnostic paradigms. It is important to exclude these specific tumor types in cases with similar morphologic spectrum before rendering a diagnosis of high-grade papillary RCC, collecting duct carcinoma, or RCC, NOS. Several gray areas exist within the spectrum of high-grade uncommon types of RCC, necessitating continued research to enhance diagnostic precision and therapeutic options.
摘要：
高级别肾细胞癌（RCC），经常被诊断为晚期，显著有助于肾癌相关死亡率。这篇综述探讨了在理解高品位碾压混凝土特定亚型方面的进展，即富马酸水合酶（FH）缺陷型RCC，间变性淋巴瘤激酶（ALK）-重排RCC，SMARCB1缺乏的肾髓样癌，所有这些现在都在WHO分类系统(2022)中被认为是分子定义的实体。虽然这些实体各自表现出与其他高级RCC重叠的形态谱，基于其独特的分子改变开发的辅助工具可以帮助建立特定的诊断，强调将分子发现整合到诊断范式中的重要性。在诊断为高度乳头状RCC之前，重要的是在具有相似形态学谱的病例中排除这些特定的肿瘤类型。集合导管癌，或RCC，NOS.在高等级不常见类型的碾压混凝土光谱中存在几个灰色区域，需要继续研究以提高诊断精度和治疗选择。
