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Chromophobe renal cell carcinoma: Novel molecular insights and clinicopathologic updates

Chromophobe renal cell carcinoma (ChRCC) is the third most common renal cell carcinoma (RCC) subtype, which predominantly occurs in sporadic setting. ChRCCs are considered to originate from the intercalated cell of distal tubules with two main morphological variants, classic and eosinophilic. Most C...

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Autores principales: Alaghehbandan, Reza, Przybycin, Christopher G., Verkarre, Virginie, Mehra, Rohit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Second Military Medical University 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8841285/
https://www.ncbi.nlm.nih.gov/pubmed/35198391
http://dx.doi.org/10.1016/j.ajur.2021.11.010
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author Alaghehbandan, Reza
Przybycin, Christopher G.
Verkarre, Virginie
Mehra, Rohit
author_facet Alaghehbandan, Reza
Przybycin, Christopher G.
Verkarre, Virginie
Mehra, Rohit
author_sort Alaghehbandan, Reza
collection PubMed
description Chromophobe renal cell carcinoma (ChRCC) is the third most common renal cell carcinoma (RCC) subtype, which predominantly occurs in sporadic setting. ChRCCs are considered to originate from the intercalated cell of distal tubules with two main morphological variants, classic and eosinophilic. Most ChRCCs carry a favorable clinical outcome. Histology alone is limited in predicting the behavior of ChRCCs that do not have overtly aggressive morphologic findings such as necrosis and sarcomatoid features. Along with positive CD117 expression, classic ChRCCs generally express diffuse and uniform CK7, while eosinophilic variant demonstrates more heterogeneous CK7 expression (rare or patchy). Multiple losses of chromosomes 1, 2, 6, 10, 13, 17, and 21 are considered to be the genetic hallmarks of classic and eosinophilic ChRCCs, while chromosomal gains are known to be associated with sarcomatoid ChRCCs. TP53 and PTEN are the two most frequently mutated genes in ChRCCs. The major challenge in the differential diagnosis of ChRCCs includes considerations around the eosinophilic variant (of ChRCCs), where it may share overlapping features with oncocytoma or other recent emergent oncocytic tumors. Most eosinophilic ChRCCs share expression of the recently described biomarkers, LINC01187 and FOXI1, with classic ChRCCs, however, a subset of eosinophilic-like ChRCCs with lower biomarker expression have been demonstrated to harbor MTOR gene mutations. Overall, the morphologic features of ChRCCs and genetic profile with combinations of chromosomal losses and gains suggest this tumor entity to represent a distinct, yet heterogeneous group of renal neoplasms.
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spelling pubmed-88412852022-02-22 Chromophobe renal cell carcinoma: Novel molecular insights and clinicopathologic updates Alaghehbandan, Reza Przybycin, Christopher G. Verkarre, Virginie Mehra, Rohit Asian J Urol Review Chromophobe renal cell carcinoma (ChRCC) is the third most common renal cell carcinoma (RCC) subtype, which predominantly occurs in sporadic setting. ChRCCs are considered to originate from the intercalated cell of distal tubules with two main morphological variants, classic and eosinophilic. Most ChRCCs carry a favorable clinical outcome. Histology alone is limited in predicting the behavior of ChRCCs that do not have overtly aggressive morphologic findings such as necrosis and sarcomatoid features. Along with positive CD117 expression, classic ChRCCs generally express diffuse and uniform CK7, while eosinophilic variant demonstrates more heterogeneous CK7 expression (rare or patchy). Multiple losses of chromosomes 1, 2, 6, 10, 13, 17, and 21 are considered to be the genetic hallmarks of classic and eosinophilic ChRCCs, while chromosomal gains are known to be associated with sarcomatoid ChRCCs. TP53 and PTEN are the two most frequently mutated genes in ChRCCs. The major challenge in the differential diagnosis of ChRCCs includes considerations around the eosinophilic variant (of ChRCCs), where it may share overlapping features with oncocytoma or other recent emergent oncocytic tumors. Most eosinophilic ChRCCs share expression of the recently described biomarkers, LINC01187 and FOXI1, with classic ChRCCs, however, a subset of eosinophilic-like ChRCCs with lower biomarker expression have been demonstrated to harbor MTOR gene mutations. Overall, the morphologic features of ChRCCs and genetic profile with combinations of chromosomal losses and gains suggest this tumor entity to represent a distinct, yet heterogeneous group of renal neoplasms. Second Military Medical University 2022-01 2021-12-01 /pmc/articles/PMC8841285/ /pubmed/35198391 http://dx.doi.org/10.1016/j.ajur.2021.11.010 Text en © 2022 Editorial Office of Asian Journal of Urology. Production and hosting by Elsevier B.V. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Review
Alaghehbandan, Reza
Przybycin, Christopher G.
Verkarre, Virginie
Mehra, Rohit
Chromophobe renal cell carcinoma: Novel molecular insights and clinicopathologic updates
title Chromophobe renal cell carcinoma: Novel molecular insights and clinicopathologic updates
title_full Chromophobe renal cell carcinoma: Novel molecular insights and clinicopathologic updates
title_fullStr Chromophobe renal cell carcinoma: Novel molecular insights and clinicopathologic updates
title_full_unstemmed Chromophobe renal cell carcinoma: Novel molecular insights and clinicopathologic updates
title_short Chromophobe renal cell carcinoma: Novel molecular insights and clinicopathologic updates
title_sort chromophobe renal cell carcinoma: novel molecular insights and clinicopathologic updates
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8841285/
https://www.ncbi.nlm.nih.gov/pubmed/35198391
http://dx.doi.org/10.1016/j.ajur.2021.11.010
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