Eosinophilic Vacuolated Tumor of the Kidney: A Review of Evolving Concepts in This Novel Subtype With Additional Insights From a Case With MTOR Mutation and Concomitant Chromosome 1 Loss

相伴的 嗜酸性 染色体 病理 突变 癌症研究 医学 生物 遗传学 内科学 基因
作者
Payal Kapur,Ming Gao,Hua Zhong,Dinesh Rakheja,Qi Cai,Iván Pedrosa,Vitaly Margulis,Lin Xu,Lisa N. Kinch,James Brugarolas
出处
期刊:Advances in Anatomic Pathology [Lippincott Williams & Wilkins]
卷期号:28 (4): 251-257 被引量:34
标识
DOI:10.1097/pap.0000000000000299
摘要

Recent advances in molecular genetics have expanded our knowledge of renal tumors and enabled a better classification. These studies have revealed that renal tumors with predominantly "eosinophilic/oncocytic" cytoplasm include several novel biological subtypes beyond the traditionally well-recognized renal oncocytoma and an eosinophilic variant of chromophobe renal cell carcinoma. Herein, we present a comprehensive review of the eosinophilic vacuolated tumor (EVT) building upon a case report including radiology, histopathology, electron microscopy, and next-generation sequencing. EVTs are characterized by mTORC1 activation. We speculate that loss of chromosome 1 in EVT with MTOR mutation may be driven in part by an advantage conferred by loss of the remaining MTOR wild-type allele. mTORC1 is best known for its role in promoting protein translation and it is interesting that dilated cisterns of rough endoplasmic reticulum (ER) likely account for the cytoplasmic vacuoles seen by light microscopy. We present an integrated view of EVT as well as cues that can assist in the differential diagnosis.

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