Case Report: Disease progression of renal cell carcinoma containing a novel putative pathogenic KAT6A::NRG1 fusion on Ipilimumab- Nivolumab immunotherapy. A case study and review of the literature

Renal cell carcinoma still carries a poor prognosis despite therapeutic advancements. Detection of genetic mutations is vital in improving our understanding of this disease as well as potential role in targeted therapy. Here we present a case of a 49 year old man with an aggressive renal cell carcin...

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Autores principales: Dawood, Almas, MacMahon, Suzanne, Dang, My-Anh Tran, Tran, Maxine G. B., Bex, Axel, Boleti, Ekaterini, Sheikh, Soha El
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9932956/
https://www.ncbi.nlm.nih.gov/pubmed/36816927
http://dx.doi.org/10.3389/fonc.2023.1111706
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author Dawood, Almas
MacMahon, Suzanne
Dang, My-Anh Tran
Tran, Maxine G. B.
Bex, Axel
Boleti, Ekaterini
Sheikh, Soha El
author_facet Dawood, Almas
MacMahon, Suzanne
Dang, My-Anh Tran
Tran, Maxine G. B.
Bex, Axel
Boleti, Ekaterini
Sheikh, Soha El
author_sort Dawood, Almas
collection PubMed
description Renal cell carcinoma still carries a poor prognosis despite therapeutic advancements. Detection of genetic mutations is vital in improving our understanding of this disease as well as potential role in targeted therapy. Here we present a case of a 49 year old man with an aggressive renal cell carcinoma bearing a novel pathogenic KAT6A::NRG1 fusion. We will explore the clinical presentation, histological and molecular diagnostics, treatment and disease progression. We will discuss the relevance of this unique fusion and comparisons with cancer cases with similar genetic mutations. Further research is warranted for such cases, in order to facilitate better targeted treatments.
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spelling pubmed-99329562023-02-17 Case Report: Disease progression of renal cell carcinoma containing a novel putative pathogenic KAT6A::NRG1 fusion on Ipilimumab- Nivolumab immunotherapy. A case study and review of the literature Dawood, Almas MacMahon, Suzanne Dang, My-Anh Tran Tran, Maxine G. B. Bex, Axel Boleti, Ekaterini Sheikh, Soha El Front Oncol Oncology Renal cell carcinoma still carries a poor prognosis despite therapeutic advancements. Detection of genetic mutations is vital in improving our understanding of this disease as well as potential role in targeted therapy. Here we present a case of a 49 year old man with an aggressive renal cell carcinoma bearing a novel pathogenic KAT6A::NRG1 fusion. We will explore the clinical presentation, histological and molecular diagnostics, treatment and disease progression. We will discuss the relevance of this unique fusion and comparisons with cancer cases with similar genetic mutations. Further research is warranted for such cases, in order to facilitate better targeted treatments. Frontiers Media S.A. 2023-02-02 /pmc/articles/PMC9932956/ /pubmed/36816927 http://dx.doi.org/10.3389/fonc.2023.1111706 Text en Copyright © 2023 Dawood, MacMahon, Dang, Tran, Bex, Boleti and Sheikh 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
Dawood, Almas
MacMahon, Suzanne
Dang, My-Anh Tran
Tran, Maxine G. B.
Bex, Axel
Boleti, Ekaterini
Sheikh, Soha El
Case Report: Disease progression of renal cell carcinoma containing a novel putative pathogenic KAT6A::NRG1 fusion on Ipilimumab- Nivolumab immunotherapy. A case study and review of the literature
title Case Report: Disease progression of renal cell carcinoma containing a novel putative pathogenic KAT6A::NRG1 fusion on Ipilimumab- Nivolumab immunotherapy. A case study and review of the literature
title_full Case Report: Disease progression of renal cell carcinoma containing a novel putative pathogenic KAT6A::NRG1 fusion on Ipilimumab- Nivolumab immunotherapy. A case study and review of the literature
title_fullStr Case Report: Disease progression of renal cell carcinoma containing a novel putative pathogenic KAT6A::NRG1 fusion on Ipilimumab- Nivolumab immunotherapy. A case study and review of the literature
title_full_unstemmed Case Report: Disease progression of renal cell carcinoma containing a novel putative pathogenic KAT6A::NRG1 fusion on Ipilimumab- Nivolumab immunotherapy. A case study and review of the literature
title_short Case Report: Disease progression of renal cell carcinoma containing a novel putative pathogenic KAT6A::NRG1 fusion on Ipilimumab- Nivolumab immunotherapy. A case study and review of the literature
title_sort case report: disease progression of renal cell carcinoma containing a novel putative pathogenic kat6a::nrg1 fusion on ipilimumab- nivolumab immunotherapy. a case study and review of the literature
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9932956/
https://www.ncbi.nlm.nih.gov/pubmed/36816927
http://dx.doi.org/10.3389/fonc.2023.1111706
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