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Eosinophilic solid and cystic renal cell carcinoma with TSC2 mutation: a case report and literature review

BACKGROUND: Eosinophilic solid and cystic renal cell carcinoma (ESC-RCC) is an under-recognized, emerging new entity of sporadic renal neoplasms, which is listed as a rare type of renal cell carcinoma in the 2022 WHO renal tumor classification. It is easily misdiagnosed because its characteristics a...

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Autores principales: He, Xin, Chen, Ying, Tang, Hao, Xu, Yujuan, Zhu, Xingyan, Wang, Caihong, Chen, Qiang, Guo, Deyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10127420/
https://www.ncbi.nlm.nih.gov/pubmed/37098579
http://dx.doi.org/10.1186/s13000-023-01341-9
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author He, Xin
Chen, Ying
Tang, Hao
Xu, Yujuan
Zhu, Xingyan
Wang, Caihong
Chen, Qiang
Guo, Deyu
author_facet He, Xin
Chen, Ying
Tang, Hao
Xu, Yujuan
Zhu, Xingyan
Wang, Caihong
Chen, Qiang
Guo, Deyu
author_sort He, Xin
collection PubMed
description BACKGROUND: Eosinophilic solid and cystic renal cell carcinoma (ESC-RCC) is an under-recognized, emerging new entity of sporadic renal neoplasms, which is listed as a rare type of renal cell carcinoma in the 2022 WHO renal tumor classification. It is easily misdiagnosed because its characteristics are insufficiently understood. CASE PRESENTATION: We report one case of ESC-RCC, a 53-year-old female patient with a right kidney mass found during clinical examination. The patient experienced no discomforting symptoms. Computer-tomography imaging at our urinary department showed a round soft tissue density shadow around the right kidney. Microscopic examination revealed a tumor displaying a solid-cystic composition of eosinophilic cells with unique features, revealed by characteristic immunohistochemical markers (CK20-positive/CK7-negative), and a nonsense mutation in TSC2. Ten months after the renal tumor resection, the patient presented in good condition with no recurrence or metastasis. CONCLUSIONS: The distinct morphological, immunophenotypic, and molecular characteristics of ESC-RCC we describe here, based on our case and the relevant literature, highlight the key points of the pathological and differential diagnosis of this novel renal neoplasm. Our findings will therefore deepen our understanding of this novel renal neoplasm and help reduce misdiagnosis.
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spelling pubmed-101274202023-04-26 Eosinophilic solid and cystic renal cell carcinoma with TSC2 mutation: a case report and literature review He, Xin Chen, Ying Tang, Hao Xu, Yujuan Zhu, Xingyan Wang, Caihong Chen, Qiang Guo, Deyu Diagn Pathol Case Report BACKGROUND: Eosinophilic solid and cystic renal cell carcinoma (ESC-RCC) is an under-recognized, emerging new entity of sporadic renal neoplasms, which is listed as a rare type of renal cell carcinoma in the 2022 WHO renal tumor classification. It is easily misdiagnosed because its characteristics are insufficiently understood. CASE PRESENTATION: We report one case of ESC-RCC, a 53-year-old female patient with a right kidney mass found during clinical examination. The patient experienced no discomforting symptoms. Computer-tomography imaging at our urinary department showed a round soft tissue density shadow around the right kidney. Microscopic examination revealed a tumor displaying a solid-cystic composition of eosinophilic cells with unique features, revealed by characteristic immunohistochemical markers (CK20-positive/CK7-negative), and a nonsense mutation in TSC2. Ten months after the renal tumor resection, the patient presented in good condition with no recurrence or metastasis. CONCLUSIONS: The distinct morphological, immunophenotypic, and molecular characteristics of ESC-RCC we describe here, based on our case and the relevant literature, highlight the key points of the pathological and differential diagnosis of this novel renal neoplasm. Our findings will therefore deepen our understanding of this novel renal neoplasm and help reduce misdiagnosis. BioMed Central 2023-04-25 /pmc/articles/PMC10127420/ /pubmed/37098579 http://dx.doi.org/10.1186/s13000-023-01341-9 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
He, Xin
Chen, Ying
Tang, Hao
Xu, Yujuan
Zhu, Xingyan
Wang, Caihong
Chen, Qiang
Guo, Deyu
Eosinophilic solid and cystic renal cell carcinoma with TSC2 mutation: a case report and literature review
title Eosinophilic solid and cystic renal cell carcinoma with TSC2 mutation: a case report and literature review
title_full Eosinophilic solid and cystic renal cell carcinoma with TSC2 mutation: a case report and literature review
title_fullStr Eosinophilic solid and cystic renal cell carcinoma with TSC2 mutation: a case report and literature review
title_full_unstemmed Eosinophilic solid and cystic renal cell carcinoma with TSC2 mutation: a case report and literature review
title_short Eosinophilic solid and cystic renal cell carcinoma with TSC2 mutation: a case report and literature review
title_sort eosinophilic solid and cystic renal cell carcinoma with tsc2 mutation: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10127420/
https://www.ncbi.nlm.nih.gov/pubmed/37098579
http://dx.doi.org/10.1186/s13000-023-01341-9
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