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Update in collecting duct carcinoma: Current aspects of the clinical and molecular characterization of an orphan disease

Collecting duct renal cell carcinoma (cdRCC), which until recently was thought to arise from the collecting ducts of Bellini in the renal medulla, is a rare and aggressive type of non-clear renal cell carcinoma (ncRCC), accounting for 1% of all renal tumors and with nearly 50% of patients being diag...

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Autores principales: Suarez, Cristina, Marmolejo, David, Valdivia, Augusto, Morales-Barrera, Rafael, Gonzalez, Macarena, Mateo, Joaquin, Semidey, Maria Eugenia, Lorente, David, Trilla, Enrique, Carles, Joan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577600/
https://www.ncbi.nlm.nih.gov/pubmed/36267983
http://dx.doi.org/10.3389/fonc.2022.970199
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author Suarez, Cristina
Marmolejo, David
Valdivia, Augusto
Morales-Barrera, Rafael
Gonzalez, Macarena
Mateo, Joaquin
Semidey, Maria Eugenia
Lorente, David
Trilla, Enrique
Carles, Joan
author_facet Suarez, Cristina
Marmolejo, David
Valdivia, Augusto
Morales-Barrera, Rafael
Gonzalez, Macarena
Mateo, Joaquin
Semidey, Maria Eugenia
Lorente, David
Trilla, Enrique
Carles, Joan
author_sort Suarez, Cristina
collection PubMed
description Collecting duct renal cell carcinoma (cdRCC), which until recently was thought to arise from the collecting ducts of Bellini in the renal medulla, is a rare and aggressive type of non-clear renal cell carcinoma (ncRCC), accounting for 1% of all renal tumors and with nearly 50% of patients being diagnosed with Stage IV disease. The median overall survival in this setting is less than 12 months. Several regimens of chemotherapies had been used based on morphologic and cytogenetic similarities with urothelial cell carcinoma described previously, although the prognosis still remains poor. The use of targeted therapies also did not result in favorable outcomes. Recent works using NGS have highlighted genomic alterations in SETD2, CDKN2A, SMARCB1, and NF2. Moreover, transcriptomic studies have confirmed the differences between urothelial carcinoma and cdRCC, the possible true origin of this disease in the distal convoluted tubule (DCT), differentiating from other RCC (e.g., clear cell and papillary) that derive from the proximal convoluted tubule (PCT), and enrichment in immune cells that may harbor insights in novel treatment strategies with immunotherapy and target agents. In this review, we update the current aspects of the clinical, molecular characterization, and new targeted therapeutic options for Collecting duct carcinoma and highlight the future perspectives of treatment in this setting.
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spelling pubmed-95776002022-10-19 Update in collecting duct carcinoma: Current aspects of the clinical and molecular characterization of an orphan disease Suarez, Cristina Marmolejo, David Valdivia, Augusto Morales-Barrera, Rafael Gonzalez, Macarena Mateo, Joaquin Semidey, Maria Eugenia Lorente, David Trilla, Enrique Carles, Joan Front Oncol Oncology Collecting duct renal cell carcinoma (cdRCC), which until recently was thought to arise from the collecting ducts of Bellini in the renal medulla, is a rare and aggressive type of non-clear renal cell carcinoma (ncRCC), accounting for 1% of all renal tumors and with nearly 50% of patients being diagnosed with Stage IV disease. The median overall survival in this setting is less than 12 months. Several regimens of chemotherapies had been used based on morphologic and cytogenetic similarities with urothelial cell carcinoma described previously, although the prognosis still remains poor. The use of targeted therapies also did not result in favorable outcomes. Recent works using NGS have highlighted genomic alterations in SETD2, CDKN2A, SMARCB1, and NF2. Moreover, transcriptomic studies have confirmed the differences between urothelial carcinoma and cdRCC, the possible true origin of this disease in the distal convoluted tubule (DCT), differentiating from other RCC (e.g., clear cell and papillary) that derive from the proximal convoluted tubule (PCT), and enrichment in immune cells that may harbor insights in novel treatment strategies with immunotherapy and target agents. In this review, we update the current aspects of the clinical, molecular characterization, and new targeted therapeutic options for Collecting duct carcinoma and highlight the future perspectives of treatment in this setting. Frontiers Media S.A. 2022-10-04 /pmc/articles/PMC9577600/ /pubmed/36267983 http://dx.doi.org/10.3389/fonc.2022.970199 Text en Copyright © 2022 Suarez, Marmolejo, Valdivia, Morales-Barrera, Gonzalez, Mateo, Semidey, Lorente, Trilla and Carles https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Suarez, Cristina
Marmolejo, David
Valdivia, Augusto
Morales-Barrera, Rafael
Gonzalez, Macarena
Mateo, Joaquin
Semidey, Maria Eugenia
Lorente, David
Trilla, Enrique
Carles, Joan
Update in collecting duct carcinoma: Current aspects of the clinical and molecular characterization of an orphan disease
title Update in collecting duct carcinoma: Current aspects of the clinical and molecular characterization of an orphan disease
title_full Update in collecting duct carcinoma: Current aspects of the clinical and molecular characterization of an orphan disease
title_fullStr Update in collecting duct carcinoma: Current aspects of the clinical and molecular characterization of an orphan disease
title_full_unstemmed Update in collecting duct carcinoma: Current aspects of the clinical and molecular characterization of an orphan disease
title_short Update in collecting duct carcinoma: Current aspects of the clinical and molecular characterization of an orphan disease
title_sort update in collecting duct carcinoma: current aspects of the clinical and molecular characterization of an orphan disease
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577600/
https://www.ncbi.nlm.nih.gov/pubmed/36267983
http://dx.doi.org/10.3389/fonc.2022.970199
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