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结节性硬化症/哺乳动物雷帕霉素靶蛋白(TSC/mTOR)通路突变相关的嗜酸性/嗜酸性粒细胞性肾肿瘤:一组具有不同形态、免疫组织化学特征和相似遗传背景的异质性肿瘤。

TSC/mTOR Pathway Mutation Associated Eosinophilic/Oncocytic Renal Neoplasms: A Heterogeneous Group of Tumors with Distinct Morphology, Immunohistochemical Profile, and Similar Genetic Background.

作者信息

Pivovarcikova Kristyna, Alaghehbandan Reza, Vanecek Tomas, Ohashi Riuko, Pitra Tomas, Hes Ondrej

机构信息

Department of Pathology, Faculty of Medicine in Pilsen, University Hospital Pilsen, Charles University in Prague, 30460 Pilsen, Czech Republic.

Department of Pathology, Faculty of Medicine, University of British Columbia, Royal Columbian Hospital, Vancouver, BC V3L 3W7, Canada.

出版信息

Biomedicines. 2022 Jan 29;10(2):322. doi: 10.3390/biomedicines10020322.

DOI:10.3390/biomedicines10020322
PMID:35203531
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8869370/
Abstract

A number of recently described renal tumor entities share an eosinophilic/oncocytic morphology, somewhat solid architectural growth pattern, and tendency to present as low-stage tumors. The vast majority of such tumors follow a non-aggressive clinical behavior. In this review, we discuss the morphological, immunohistochemical, and molecular genetic profiles of the three most recent novel/emerging renal entities associated with TSC/mTOR pathway mutations. These are eosinophilic solid and cystic renal cell carcinoma, eosinophilic vacuolated tumors, and low-grade oncocytic tumors, which belong to a heterogeneous group of renal tumors, demonstrating mostly solid architecture, eosinophilic/oncocytic cytoplasm, and overlapping morphological and immunohistochemical features between renal oncocytoma and chromophobe renal cell carcinoma. All three tumors also share a molecular genetic background with mutations in the mTORC1 pathway (). Despite the common genetic background, it appears that the tumors with mutations represent a diverse group of distinct renal neoplasms.

摘要

一些最近描述的肾肿瘤实体具有嗜酸性/嗜酸性细胞瘤形态、某种实性结构生长模式以及呈现为低分期肿瘤的倾向。绝大多数此类肿瘤具有非侵袭性临床行为。在本综述中,我们讨论与TSC/mTOR通路突变相关的三种最新的新型/新兴肾实体的形态学、免疫组织化学和分子遗传学特征。这些是嗜酸性实性和囊性肾细胞癌、嗜酸性空泡化肿瘤以及低级别嗜酸性细胞瘤,它们属于一组异质性肾肿瘤,大多表现为实性结构、嗜酸性/嗜酸性细胞瘤细胞质,并且肾嗜酸性细胞瘤和嫌色性肾细胞癌之间存在形态学和免疫组织化学特征重叠。所有这三种肿瘤在mTORC1通路中也都存在分子遗传学背景突变()。尽管有共同的遗传背景,但似乎具有突变的肿瘤代表了一组不同的独特肾肿瘤。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b226/8869370/2a3ab3286695/biomedicines-10-00322-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b226/8869370/6480085d9370/biomedicines-10-00322-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b226/8869370/bad075973419/biomedicines-10-00322-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b226/8869370/4746f5f1a74c/biomedicines-10-00322-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b226/8869370/2a3ab3286695/biomedicines-10-00322-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b226/8869370/6480085d9370/biomedicines-10-00322-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b226/8869370/bad075973419/biomedicines-10-00322-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b226/8869370/4746f5f1a74c/biomedicines-10-00322-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b226/8869370/2a3ab3286695/biomedicines-10-00322-g004.jpg

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本文引用的文献

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Morphologic overlap between low-grade oncocytic tumor and eosinophilic variant of chromophobe renal cell carcinoma.低级别嗜酸性细胞瘤与嫌色肾细胞癌嗜酸性变体之间的形态学重叠。
Hum Pathol. 2022 Jan;119:114-116. doi: 10.1016/j.humpath.2021.09.010. Epub 2021 Oct 8.
2
Germline and sporadic mTOR pathway mutations in low-grade oncocytic tumor of the kidney.肾脏低级别嗜酸细胞瘤中的种系和散发性 mTOR 通路突变。
Mod Pathol. 2022 Mar;35(3):333-343. doi: 10.1038/s41379-021-00896-6. Epub 2021 Sep 20.
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Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1.
嗜酸性实性和囊性肾细胞癌的系统评价和荟萃分析。
Int J Mol Sci. 2024 May 30;25(11):5982. doi: 10.3390/ijms25115982.
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Diagnostic Biomarkers in Renal Cell Tumors According to the Latest WHO Classification: A Focus on Selected New Entities.根据世界卫生组织最新分类的肾细胞肿瘤诊断生物标志物:聚焦选定的新实体
Cancers (Basel). 2024 May 13;16(10):1856. doi: 10.3390/cancers16101856.
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