Abstract

PurposeGenetic 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.MethodsA literature review was performed summarising the current knowledge on hereditary RCC diagnosis, surveillance and management.ResultsFamilial 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.ConclusionIncreasing 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.

Highlights

  • Obesity and hypertension, genetic factors have been implicated in the pathogenesis of renal cell carcinoma (RCC) with around 3% of cases having a family history [1]

  • Familial RCC is usually inherited in an autosomal dominant manner

  • Patients harbouring a mutation in a gene predisposing to RCC do not necessarily have a family history of RCC

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Summary

Introduction

Obesity and hypertension, genetic factors have been implicated in the pathogenesis of renal cell carcinoma (RCC) with around 3% of cases having a family history [1]. Familial RCC is usually inherited in an autosomal dominant manner (though there may be incomplete penetrance). H + E-stained histological appearance of an SDHB-deficient RCC. C Loss of SDHB protein expression on immunostaining of the RCC tumour in the lower part of the image, with SDHB staining present in the adjacent normal renal tissue visible in the upper image. There is evidence of intracytoplasmic vacuoles marked by the black arrow. c Loss of SDHB protein expression on immunostaining of the RCC tumour in the lower part of the image, with SDHB staining present in the adjacent normal renal tissue visible in the upper image. (Reprinted with permission from [39])

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