Durable Response to Pazopanib in a Patient with Fumarate Hydratase-Mutant Tubulocystic Renal Cell Carcinoma

Tubulocystic carcinoma of the kidney (TC-RCC) is a rare renal tumor and has been recently included as a distinct entity in WHO classification of renal neoplasms. We report the case of a patient with metastatic tubulocystic RCC whose disease progressed through standard of care treatment for nonclear...

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Autores principales: Othman, Anjum, Kumar, Shiyam, Qureshi, Asim, Jawa, Zabah M., Burney, Ikram A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10105324/
https://www.ncbi.nlm.nih.gov/pubmed/37069897
http://dx.doi.org/10.1159/000528697
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author Othman, Anjum
Kumar, Shiyam
Qureshi, Asim
Jawa, Zabah M.
Burney, Ikram A.
author_facet Othman, Anjum
Kumar, Shiyam
Qureshi, Asim
Jawa, Zabah M.
Burney, Ikram A.
author_sort Othman, Anjum
collection PubMed
description Tubulocystic carcinoma of the kidney (TC-RCC) is a rare renal tumor and has been recently included as a distinct entity in WHO classification of renal neoplasms. We report the case of a patient with metastatic tubulocystic RCC whose disease progressed through standard of care treatment for nonclear RCC. However, genetic analysis revealed a germline pathogenic variant of fumarate hydratase (FH) gene, and the patient had a sustained and durable response to pazopanib.
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spelling pubmed-101053242023-04-16 Durable Response to Pazopanib in a Patient with Fumarate Hydratase-Mutant Tubulocystic Renal Cell Carcinoma Othman, Anjum Kumar, Shiyam Qureshi, Asim Jawa, Zabah M. Burney, Ikram A. Case Rep Oncol Case Report Tubulocystic carcinoma of the kidney (TC-RCC) is a rare renal tumor and has been recently included as a distinct entity in WHO classification of renal neoplasms. We report the case of a patient with metastatic tubulocystic RCC whose disease progressed through standard of care treatment for nonclear RCC. However, genetic analysis revealed a germline pathogenic variant of fumarate hydratase (FH) gene, and the patient had a sustained and durable response to pazopanib. S. Karger AG 2023-04-14 /pmc/articles/PMC10105324/ /pubmed/37069897 http://dx.doi.org/10.1159/000528697 Text en © 2023 The Author(s). Published by S. Karger AG, Basel https://creativecommons.org/licenses/by-nc/4.0/This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
Othman, Anjum
Kumar, Shiyam
Qureshi, Asim
Jawa, Zabah M.
Burney, Ikram A.
Durable Response to Pazopanib in a Patient with Fumarate Hydratase-Mutant Tubulocystic Renal Cell Carcinoma
title Durable Response to Pazopanib in a Patient with Fumarate Hydratase-Mutant Tubulocystic Renal Cell Carcinoma
title_full Durable Response to Pazopanib in a Patient with Fumarate Hydratase-Mutant Tubulocystic Renal Cell Carcinoma
title_fullStr Durable Response to Pazopanib in a Patient with Fumarate Hydratase-Mutant Tubulocystic Renal Cell Carcinoma
title_full_unstemmed Durable Response to Pazopanib in a Patient with Fumarate Hydratase-Mutant Tubulocystic Renal Cell Carcinoma
title_short Durable Response to Pazopanib in a Patient with Fumarate Hydratase-Mutant Tubulocystic Renal Cell Carcinoma
title_sort durable response to pazopanib in a patient with fumarate hydratase-mutant tubulocystic renal cell carcinoma
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10105324/
https://www.ncbi.nlm.nih.gov/pubmed/37069897
http://dx.doi.org/10.1159/000528697
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