文章：

肾肿瘤中TSC/mTOR通路异常的近期进展：以结节性硬化症患者和散发性病例为例

Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting

原文发布日期：10 August 2023

DOI: 10.3390/cancers15164043

类型:  Review

开放获取: 是

英文摘要：

A spectrum of renal tumors associated with frequent TSC/mTOR (tuberous sclerosis complex/mechanistic target of rapamycin) pathway gene alterations (in both the germline and sporadic settings) have recently been described. These include renal cell carcinoma with fibromyomatous stroma (RCC FMS), eosinophilic solid and cystic renal cell carcinoma (ESC RCC), eosinophilic vacuolated tumor (EVT), and low-grade oncocytic tumor (LOT). Most of these entities have characteristic morphologic and immunohistochemical features that enable their recognition without the need for molecular studies. In this report, we summarize recent advances and discuss their evolving complexity.

摘要翻译： 

最近描述了一系列与频繁的TSC/mTOR（结节性硬化症复合物/雷帕霉素机制靶点）通路基因改变相关的肾肿瘤（包括遗传性和散发性情况）。这些包括伴有纤维肌性间质的肾细胞癌（RCC FMS）、嗜酸性实性和囊性肾细胞癌（ESC RCC）、嗜酸性空泡状肿瘤（EVT）以及低度嗜酸细胞肿瘤（LOT）。这些实体中的大多数具有特征性的形态学和免疫组化特征，使得无需分子研究即可识别它们。在本报告中，我们总结了最近的进展，并讨论了它们日益增长的复杂性。

原文链接：

Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting