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World Journal of Urology

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Open Access 01-12-2018 | Invited Review

Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management

Author: Eamonn R. Maher

Published in: World Journal of Urology | Issue 12/2018

Abstract

Purpose

Genetic factors have been implicated in the pathogenesis of renal cell carcinoma (RCC), with around 3% of cases having a family history. A greater knowledge of the genetics of inherited RCC has the potential to translate into novel therapeutic targets for sporadic RCC.

Methods

A literature review was performed summarising the current knowledge on hereditary RCC diagnosis, surveillance and management.

Results

Familial RCC is usually inherited in an autosomal dominant manner, although inherited RCC may present without a relevant family history. A number of familial RCC syndromes have been identified. Familial non-syndromic RCC is suspected when ≥ 2 relatives are affected in the absence of syndromic features, although clear diagnostic criteria are lacking. Young age at onset and bilateral/multicentric tumours are recognised characteristics which should prompt molecular genetic analysis. Surveillance in individuals at risk of inherited RCC aims to prevent morbidity and mortality via early detection of tumours. Though screening and management guidelines for some inherited RCC syndromes (e.g. von Hippel–Lindau disease, Birt–Hogg–Dube syndrome, hereditary leiomyomatosis) are well defined for rare cause of inherited RCC (e.g. germline BAP1 mutations), there is limited information regarding the lifetime RCC risks and the most appropriate screening modalities.

Conclusion

Increasing knowledge of the natural history and genetic basis has led to characterisation and tailored management of hereditary RCC syndromes. International data sharing of inherited RCC gene variant information may enable evidence-based improvements in the diagnosis, surveillance protocols and management of these rare conditions.

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Title: Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management
Author: Eamonn R. Maher
Publication date: 01-12-2018
Publisher: Springer Berlin Heidelberg
Published in: World Journal of Urology / Issue 12/2018
Print ISSN: 0724-4983
Electronic ISSN: 1433-8726
DOI: https://doi.org/10.1007/s00345-018-2288-5

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management

Abstract

Purpose

Methods

Results

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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