Clinical predictors of a positive test result in patients undergoing genetic evaluation for a hereditary kidney cancer syndrome
Keywords:kidney cancer, hereditary kidney cancer, renal cell carcinoma, hereditary kidney cancer syndrome, hereditary renal cell carcinoma, genetic evaluation
Introduction: Guidelines are available to assist providers in identifying patients with renal cell carcinoma (RCC) that may benefit from genetic counselling, however, the evidence for these recommendations lacks support from the literature and controversy remains as to who should be referred. We aimed to delineate risk factors associated with a positive genetic test in a real-life cohort of patients with RCC referred to a regional medical genetics unit for evaluation of a hereditary kidney cancer syndrome.
Methods: Patients with a diagnosis of RCC referred to Maritime Medical Genetics Service (Nova Scotia, Canada) from 2006–2017 were reviewed using retrospective data. The primary outcome was identification of clinical features that were associated with a positive test result. Logistic regression models were used for analysis.
Results: A total of 135 patients were referred to medical genetics for evaluation; 102 patients were evaluated, 75 underwent testing, and 74 were included in the final analysis. Five patients tested positive: three Birt-Hogg-Dubé, one Cowden syndrome, and one Von Hippel-Lindau. Presence of dermatological lesions (specifically fibrofolliculomas) and more than two high-risk features were the only predictors of a positive test result.
Conclusions: The presence of dermatological lesions and more than two high-risk features are the only predictors of a positive test result in patients with a suspected hereditary kidney cancer syndrome. These findings are not reflected in current guidelines, and the clinical implementation of our results may improve the identification of high-risk patients for genetic counselling.
How to Cite
You, the Author(s), assign your copyright in and to the Article to the Canadian Urological Association. This means that you may not, without the prior written permission of the CUA:
- Post the Article on any Web site
- Translate or authorize a translation of the Article
- Copy or otherwise reproduce the Article, in any format, beyond what is permitted under Canadian copyright law, or authorize others to do so
- Copy or otherwise reproduce portions of the Article, including tables and figures, beyond what is permitted under Canadian copyright law, or authorize others to do so.
The CUA encourages use for non-commercial educational purposes and will not unreasonably deny any such permission request.
You retain your moral rights in and to the Article. This means that the CUA may not assert its copyright in such a way that would negatively reflect on your reputation or your right to be associated with the Article.
The CUA also requires you to warrant the following:
- That you are the Author(s) and sole owner(s), that the Article is original and unpublished and that you have not previously assigned copyright or granted a licence to any other third party;
- That all individuals who have made a substantive contribution to the article are acknowledged;
- That the Article does not infringe any proprietary right of any third party and that you have received the permissions necessary to include the work of others in the Article; and
- That the Article does not libel or violate the privacy rights of any third party.