CONTEXT: Hereditary renal cancers (HRCs) comprise approximately 3-5% of renal cell carcinomas (RCCs). OBJECTIVE: Our aim was to provide an overview of the currently known HRC syndromes in adults. EVIDENCE ACQUISITION: Data on HRC syndromes were analysed using PubMed and Online Mendelian Inheritance in Man with an emphasis on kidney cancer, clinical criteria, management, treatment, and genetic counselling and screening. EVIDENCE SYNTHESIS: Ten HRC syndromes have been described that are inherited with an autosomal dominant trait. Eight genes have already been identified (VHL, MET, FH, FLCN, TSC1, TSC2, CDC73, and SDHB). These HRC syndromes involve one or more RCC histologic subtypes and are generally bilateral and multiple. Computed tomography and magnetic resonance imaging are the best imaging techniques for surveillance and assessment of renal lesions, but there are no established guidelines for follow-up after imaging. Except for hereditary leiomyomatosis RCC tumours, conservative treatments favour both an oncologically effective therapeutic procedure and a better preservation of renal function. CONCLUSIONS: HRC involves multiple clinical manifestations, histologic subtypes, genetic alterations, and molecular pathways. Urologists should know about HRC syndromes in the interest of their patients and families.
CONTEXT: Hereditary renal cancers (HRCs) comprise approximately 3-5% of renal cell carcinomas (RCCs). OBJECTIVE: Our aim was to provide an overview of the currently known HRC syndromes in adults. EVIDENCE ACQUISITION: Data on HRC syndromes were analysed using PubMed and Online Mendelian Inheritance in Man with an emphasis on kidney cancer, clinical criteria, management, treatment, and genetic counselling and screening. EVIDENCE SYNTHESIS: Ten HRC syndromes have been described that are inherited with an autosomal dominant trait. Eight genes have already been identified (VHL, MET, FH, FLCN, TSC1, TSC2, CDC73, and SDHB). These HRC syndromes involve one or more RCC histologic subtypes and are generally bilateral and multiple. Computed tomography and magnetic resonance imaging are the best imaging techniques for surveillance and assessment of renal lesions, but there are no established guidelines for follow-up after imaging. Except for hereditary leiomyomatosis RCC tumours, conservative treatments favour both an oncologically effective therapeutic procedure and a better preservation of renal function. CONCLUSIONS:HRC involves multiple clinical manifestations, histologic subtypes, genetic alterations, and molecular pathways. Urologists should know about HRC syndromes in the interest of their patients and families.
Authors: Maria I Carlo; A Ari Hakimi; Grant D Stewart; Gennady Bratslavsky; James Brugarolas; Ying-Bei Chen; W Marston Linehan; Eamonn R Maher; Maria J Merino; Kenneth Offit; Victor E Reuter; Brian Shuch; Jonathan A Coleman Journal: Eur Urol Date: 2019-07-18 Impact factor: 20.096
Authors: Maryam Mahmoodi; Tu Nguyen-Dumont; Fleur Hammet; Bernard J Pope; Daniel J Park; Melissa C Southey; John M Darlow; Fiona Bruinsma; Ingrid Winship Journal: Fam Cancer Date: 2017-07 Impact factor: 2.375
Authors: Johannes Schödel; Steffen Grampp; Eamonn R Maher; Holger Moch; Peter J Ratcliffe; Paul Russo; David R Mole Journal: Eur Urol Date: 2015-08-19 Impact factor: 20.096
Authors: Grant D Stewart; Fiach C O'Mahony; Thomas Powles; Antony C P Riddick; David J Harrison; Dana Faratian Journal: Nat Rev Urol Date: 2011-04-12 Impact factor: 14.432
Authors: M Neil Reaume; Gail E Graham; Eva Tomiak; Suzanne Kamel-Reid; Michael A S Jewett; Georg A Bjarnason; Normand Blais; Melanie Care; Darryl Drachenberg; Craig Gedye; Ronald Grant; Daniel Y C Heng; Anil Kapoor; Christian Kollmannsberger; Jean-Baptiste Lattouf; Eamonn R Maher; Arnim Pause; Dean Ruether; Denis Soulieres; Simon Tanguay; Sandra Turcotte; Philippe D Violette; Lori Wood; Joan Basiuk; Stephen E Pautler Journal: Can Urol Assoc J Date: 2013 Sep-Oct Impact factor: 1.862
Authors: Karin A W Wadt; Anne-Marie Gerdes; Thomas V O Hansen; Birgitte G Toft; Lennart Friis-Hansen; Mette K Andersen Journal: Fam Cancer Date: 2012-09 Impact factor: 2.375