Zhang, Huairen, Andreou, Avgi, Bhatt, Rupesh, Whitworth, James, Yngvadottir, Bryndis and Maher, Eamonn R. (2024). Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review. European Journal of Human Genetics, 32 (8), pp. 887-894.
Abstract
In a subset of patients with renal tumours, multiple primary lesions may occur. Predisposition to multiple primary renal tumours (MPRT) is a well-recognised feature of some inherited renal cancer syndromes. The diagnosis of MPRT should therefore provoke a thorough assessment for clinical and genetic evidence of disorders associated with predisposition to renal tumourigenesis. To better define the clinical and genetic characteristics of MPRT, a systematic literature review was performed for publications up to 3 April 2024. A total of 7689 patients from 467 articles were identified with MPRT. Compared to all patients with renal cell carcinoma (RCC), patients with MPRT were more likely to be male (71.8% versus 63%) and have an earlier age at diagnosis (<46 years, 32.4% versus 19%). In 61.1% of cases MPRT were synchronous. The proportion of cases with similar histology and the proportion of cases with multiple papillary renal cell carcinoma (RCC) (16.1%) were higher than expected. In total, 14.9% of patients with MPRT had a family history of cancer or were diagnosed with a hereditary RCC associated syndrome with von Hippel-Lindau (VHL) disease being the most common one (69.7%), followed by Birt-Hogg-Dubé (BHD) syndrome (14.2%). Individuals with a known or likely genetic cause were, on average, younger (43.9 years versus 57.1 years). In rare cases intrarenal metastatic RCC can phenocopy MPRT. We review potential genetic causes of MPRT and their implications for management, suggest an approach to genetic testing for individuals presenting with MPRT and considerations in cases in which routine germline genetic testing does not provide a diagnosis.
Publication DOI: | https://doi.org/10.1038/s41431-024-01628-5 |
---|---|
Divisions: | College of Health & Life Sciences > Aston Medical School |
Additional Information: | Copyright © The Author(s) 2024. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit https://creativecommons.org/licenses/by/4.0/ |
Publication ISSN: | 1476-5438 |
Last Modified: | 20 Dec 2024 18:45 |
Date Deposited: | 20 Jun 2024 17:12 |
Full Text Link: | |
Related URLs: |
https://www.nat ... 431-024-01628-5
(Publisher URL) http://www.scop ... tnerID=8YFLogxK (Scopus URL) |
PURE Output Type: | Review article |
Published Date: | 2024-08 |
Published Online Date: | 2024-05-27 |
Accepted Date: | 2024-05-01 |
Authors: |
Zhang, Huairen
Andreou, Avgi Bhatt, Rupesh Whitworth, James Yngvadottir, Bryndis Maher, Eamonn R. |