TY - JOUR
T1 - Hereditary renal cell carcinoma syndromes
T2 - diagnosis, surveillance and management
AU - Maher, Eamonn R.
PY - 2018/12/1
Y1 - 2018/12/1
N2 - 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.
AB - 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.
KW - Familial syndromic renal cancer
KW - Genetics
KW - von Hippel–Lindau review
UR - http://www.scopus.com/inward/record.url?scp=85045770323&partnerID=8YFLogxK
UR - https://link.springer.com/article/10.1007/s00345-018-2288-5
U2 - 10.1007/s00345-018-2288-5
DO - 10.1007/s00345-018-2288-5
M3 - Review article
C2 - 29680948
AN - SCOPUS:85045770323
SN - 0724-4983
VL - 36
SP - 1891
EP - 1898
JO - World Journal of Urology
JF - World Journal of Urology
IS - 12
ER -