Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
Adv Anat Pathol. 2024 Mar 1;31(2):118-125. doi: 10.1097/PAP.0000000000000426. Epub 2023 Dec 25.
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.
高级肾细胞癌（RCC）常发生在晚期，是导致肾癌相关死亡的主要原因。本综述探讨了对高级 RCC 特定亚型的理解进展，包括琥珀酸脱氢酶（FH）缺陷型 RCC、间变性淋巴瘤激酶（ALK）重排型 RCC 和 SMARCB1 缺失性肾髓质癌，这些均已被纳入 2022 年世界卫生组织分类系统中的分子定义实体。尽管这些实体的形态学表现均与其他高级 RCC 存在重叠，但基于其独特分子改变开发的辅助工具可有助于明确特定诊断，这凸显了将分子发现纳入诊断模式的重要性。在诊断高级乳头状 RCC、肾集合管癌或 RCC，NOS 之前，排除具有相似形态学谱的特定肿瘤类型非常重要。在高级罕见类型 RCC 的形态学谱中存在几个灰色区域，需要进一步研究以提高诊断精度和治疗选择。
