Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Phoenix, AZ, 85054, USA.
Hum Pathol. 2023 Mar;133:136-152. doi: 10.1016/j.humpath.2023.02.012. Epub 2023 Mar 7.
Renal manifestations in patients with tuberous sclerosis complex (TSC) include cysts, angiomyolipoma, and renal cell carcinoma. Unlike many hereditary predisposition syndromes, the spectrum of renal tumors in TSC patients (including both angiomyolipoma and renal cell carcinoma) is broad, with significant morphologic heterogeneity. An improved understanding of histopathologic findings in TSC patients and associated clinicopathologic correlates has significant implications not just in establishing a diagnosis of TSC, but also in the recognition of sporadic tumors occurring secondary to somatic alterations of TSC1/TSC2/MTOR pathway genes and accurate prognostication. In this review, we have discussed issues relevant to clinical management based on histopathologic findings in nephrectomy specimens from patients with TSC. This includes discussions related to screening for TSC, diagnosis of PKD1/TSC2 contiguous gene deletion syndrome, the morphologic spectrum of angiomyolipoma and renal epithelium-derived neoplasia, including the risk of disease progression.
结节性硬化症（TSC）患者的肾脏表现包括囊肿、血管平滑肌脂肪瘤和肾细胞癌。与许多遗传性倾向综合征不同，TSC 患者的肾脏肿瘤谱（包括血管平滑肌脂肪瘤和肾细胞癌）广泛，具有显著的形态异质性。对 TSC 患者的组织病理学发现及其相关临床病理相关性的认识的提高，不仅对 TSC 的诊断具有重要意义，而且对继发于 TSC1/TSC2/MTOR 通路基因突变的散发性肿瘤的认识和准确预后也具有重要意义。在这篇综述中，我们根据 TSC 患者肾切除标本的组织病理学发现，讨论了与临床管理相关的问题。这包括与 TSC 筛查、PKD1/TSC2 连续基因缺失综合征的诊断、血管平滑肌脂肪瘤和肾上皮源性肿瘤的形态谱相关的讨论，包括疾病进展的风险。
