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

Anjum Othman; Shiyam Kumar; Asim Qureshi; Zabah M. Jawa; Ikram A. Burney

doi:10.1159/000528697

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

Anjum Othman^*, Shiyam Kumar, Asim Qureshi, Zabah M. Jawa, Ikram A. Burney

^*Corresponding author for this work

Medicine

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	234-242
Number of pages	9
Journal	Case Reports in Oncology
DOIs	https://doi.org/10.1159/000528697
Publication status	Accepted/In press - 2023

Keywords

Fumarate hydrogenase
Genomic profiling
Pazopanib
Precision oncology
Renal cell carcinoma
Tubulocystic

ASJC Scopus subject areas

Oncology

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10.1159/000528697

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

abstract = "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.",

keywords = "Fumarate hydrogenase, Genomic profiling, Pazopanib, Precision oncology, Renal cell carcinoma, Tubulocystic",

author = "Anjum Othman and Shiyam Kumar and Asim Qureshi and Jawa, {Zabah M.} and Burney, {Ikram A.}",

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AU - Othman, Anjum

AU - Kumar, Shiyam

AU - Qureshi, Asim

AU - Jawa, Zabah M.

AU - Burney, Ikram A.

PY - 2023

Y1 - 2023

N2 - 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.

AB - 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.

KW - Fumarate hydrogenase

KW - Genomic profiling

KW - Pazopanib

KW - Precision oncology

KW - Renal cell carcinoma

KW - Tubulocystic

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

Abstract

Keywords

ASJC Scopus subject areas

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