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嗜酸细胞空泡性肾肿瘤:这种新型亚型不断发展的概念综述,同时结合了一例具有 MTOR 突变和伴随 1 号染色体缺失的病例的深入见解。

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.

机构信息

Departments/Centers of Pathology.

Urology.

出版信息

Adv Anat Pathol. 2021 Jul 1;28(4):251-257. doi: 10.1097/PAP.0000000000000299.

Abstract

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.

摘要

近年来,分子遗传学的进展扩展了我们对肾肿瘤的认识,并实现了更好的分类。这些研究表明,具有主要“嗜酸性/嗜碱性细胞质”的肾肿瘤除了传统上公认的肾嗜酸细胞瘤和嗜酸性变透明细胞肾细胞癌外,还包括几种新型生物学亚型。在此,我们基于包括放射影像学、组织病理学、电子显微镜和下一代测序在内的一个病例报告,对嗜酸空泡性肿瘤 (EVT) 进行了全面回顾。EVTs 的特征是 mTORC1 激活。我们推测,在具有 MTOR 突变的 EVT 中,染色体 1 的丢失可能部分是由于剩余 MTOR 野生型等位基因丢失所带来的优势所致。mTORC1 最著名的作用是促进蛋白质翻译,有趣的是,粗面内质网 (ER) 的扩张腔可能是光镜下所见细胞质空泡的原因。我们提出了一个关于 EVT 的综合观点,以及有助于鉴别诊断的线索。

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