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

Almas Dawood; Suzanne MacMahon; My-Anh Tran Dang; Maxine G B Tran; Axel Bex; Ekaterini Boleti; Soha El Sheikh

doi:10.3389/fonc.2023.1111706

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

Front Oncol. 2023 Feb 2:13:1111706. doi: 10.3389/fonc.2023.1111706. eCollection 2023.

Authors

Almas Dawood¹, Suzanne MacMahon², My-Anh Tran Dang¹, Maxine G B Tran^{3

4}, Axel Bex³, Ekaterini Boleti³, Soha El Sheikh^{1

5}

Affiliations

¹ Department of Cellular Pathology, Royal Free London Foundation Trust, London, United Kingdom.
² The Centre for Molecular Pathology, The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust, London, United Kingdom.
³ Specialist Centre for Kidney Cancer, Royal Free Hospital, London, United Kingdom.
⁴ Division of Surgery and Interventional Science, University College London, London, United Kingdom.
⁵ Research Department of Pathology, University College London (UCL) Cancer Institute, London, United Kingdom.

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.

Keywords: KAT6A; Nrg1; fusion; immunotherapy; mutation; renal cell carcinoma.

Publication types

Case Reports