UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

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 GB; Bex, Axel; Boleti, Ekaterini; Sheikh, Soha El; (2023) 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. Frontiers in Oncology , 13 , Article 1111706. 10.3389/fonc.2023.1111706. Green open access

[thumbnail of Case Report Disease progression of renal cell carcinoma containing a novel putative pathogenic iKAT6ANRG1i fusion on Ipilimu.pdf]
Preview
PDF
Case Report Disease progression of renal cell carcinoma containing a novel putative pathogenic iKAT6ANRG1i fusion on Ipilimu.pdf - Published Version

Download (1MB) | Preview

Abstract

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.

Type: Article
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
Location: Switzerland
Open access status: An open access version is available from UCL Discovery
DOI: 10.3389/fonc.2023.1111706
Publisher version: http://doi.org/10.3389/fonc.2023.1111706
Language: English
Additional information: © 2023 Dawood, MacMahon, Dang, Tran, Bex, Boleti and Sheikh. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY) (http://creativecommons.org/licenses/by/4.0/). 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.
Keywords: renal cell carcinoma, Nrg1, KAT6A, fusion, mutation, immunotherapy
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Surgery and Interventional Sci
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Surgery and Interventional Sci > Department of Surgical Biotechnology
URI: https://discovery.ucl.ac.uk/id/eprint/10168981
Downloads since deposit
30Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item