TFE3型
TFEB
嫌色细胞
病理
肾细胞癌
清除单元格
SDHB系统
生物
旅客8
小眼畸形相关转录因子
荧光原位杂交
沙粒体
免疫组织化学
癌症研究
医学
突变
基因表达
遗传学
基因
转录因子
发起人
染色体
种系突变
作者
Sara M. Falzarano,Jesse K. McKenney,Rodolfo Montironi,John N. Eble,Adeboye O. Osunkoya,Juan Guo,Shengmei Zhou,Hong Xiao,Saravana M. Dhanasekaran,Sudhanshu Shukla,Rohit Mehra,Cristina Magi‐Galluzzi
标识
DOI:10.1097/pas.0000000000000632
摘要
Renal cell carcinoma (RCC) associated with neuroblastoma (NB) was included as a distinct entity in the 2004 World Health Organization classification of kidney tumors. A spectrum of RCC subtypes has been reported in NB survivors. We herein describe a series of 8 RCCs diagnosed in 7 patients with a history of NB. Microscopic evaluation, immunohistochemical staining for PAX8, cathepsin K, and succinate dehydrogenase subunit B (SDHB), and fluorescence in situ hybridization (FISH) for TFE3 and TFEB were performed. Four distinct morphologic subtypes were identified: 3 tumors were characterized by cells with abundant oncocytoid cytoplasm and irregular nuclei; 3 showed features of microphthalmia transcription factor family translocation RCC (MiTF-RCC); 1 had features of hybrid oncocytic-chromophobe tumor; 1 had papillary RCC histology. All RCCs expressed PAX8 and retained SDHB expression. Cathepsin K was positive in 2 MiTF-RCCs, 1 was TFEB FISH positive, and the other was indeterminate. Cathepsin K was negative in a third MiTF-RCC with TFE3 rearrangement. TFE3 FISH was negative in 4 and insufficient in 1 of the other 5 RCCs. While a subset of RCCs associated with NB is characterized by cells with prominent oncocytoid cytoplasm, other RCC subtypes also occur in post-NB patients. Renal neoplasms occurring in patients with a history of NB do not represent a single entity but a heterogenous group of RCCs. SDHB mutations do not explain the subset of nontranslocation RCCs with oncocytoid features; therefore, further studies are needed to clarify whether they may represent a distinct entity with unique molecular abnormalities or may belong to other emerging RCC subtypes.
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