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      Renal Cell Carcinoma in a Young Adult – Do We Need Further Investigations?

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          Abstract

          Renal cell carcinomas (RCC), mostly occurring in adults aged 60–70 years, can result from well-known factors like cigarette smoking, obesity and hypertension. However, they have been associated with genetic alterations in children and young adults. A 28 year-old male patient with a confirmed RCC underwent biomolecular and immunohistochemical analyses due to his young age. A point mutation of the von Hippel-Lindau tumor suppressor gene was identified. Young patients under 40 years with diagnosed RCC should undergo additional diagnostic investigation, hence the discovery of an underlying cause. This could be important for further treatment and counseling of these young patients.

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          Genetic pathways involved in carcinogenesis of clear cell renal cell carcinoma: genomics towards personalized medicine.

          What's known on the subject? and What does the study add? Sporadic clear cell Renal Cell Carcinoma (ccRCC) is dominated by nutations of the VHL gene located on chromosome 3p in up to 90% of cases. This gene plays a critical role in hypoxia response, including stimulation of neoangiogenesis. Since 2006, anti-angiogenci therapies targeting this pathway are used in metastatic patients with objective response rate as high as 45%. However, these treatments don't target directly the tumour cell, allowing the potential for disease progession despite treatment. Large scale analysis recently showed that substantial genetic heterogeneity exists in ccRCC. Associated alterations include genes implicated in methylation regulation in 15% of cases, underlying the importance of epigenetic modifications, and truncating mutations in chromatin remodelling complex PRMB1 in 41% of cases. Systematic screening of these tumours is a way to fully determine the somatic genetic architecture of RCC in order to improve tumour classification, to develop prognostic and predictive markers and to target new molecular pathways involved in carcinogenesis. • A critical review is provided of the recent progress in oncogenetics applied to renal cell carcinoma (RCC) by highlighting our current understanding of the genetic pathways involved in carcinogenesis and its current and future clinical application. • RCC comprises a model of translational research because an improved understanding of molecular pathways has led to several targeted therapy options for patients with metastatic RCC. • Alteration of the product of the Von Hippel-Lindau gene/hypoxia inductible factor/vascular endothelial growth factor pathway is well characterized in carcinogenesis and is the target of the current therapies for metastatic RCC. • However, substantial genetic heterogeneity exists in this cancer and current treatments do not target directly the tumour cell. • Improving overall survival still remains a challenging objective but, currently, there is a lack of prognostic and predictive biomarkers for response to treatment. • Further information is awaited from the genomic approach to tumour classification, prognostic markers and predictive indicators of response to the treatment, as well as the personal susceptibility of developing RCC when exposed to risk factors. • Recent technological developments, such as large-scale analysis and high-speed sequencing, will allow the systematic screening of tumours to fully determine the somatic genetic architecture of RCC. © 2011 THE AUTHORS. BJU INTERNATIONAL © 2011 BJU INTERNATIONAL.
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            Benefits of Screening in von Hippel-Lindau Disease – Comparison of Morbidity Associated with Initial Tumours in Affected Parents and Children

            Von Hippel-Lindau (VHL) is a rare autosomal dominant syndrome characterised by the association of retinal and CNS haemangioblastomas, phaeochromocytoma and renal cell carcinoma. If a child of an affected parent has inherited a VHL mutation or the parent’s mutation cannot be identified, then clinical screening is recommended. We report the clinical features in three parent-offspring pairs where the parents have presented clinically with renal cell carcinoma, phaeochromocytoma, cerebellar haemangioblastoma and retinal haemangioma, and the children have undergone pre-symptomatic screening. During the first screening a 13-year-old boy was diagnosed with bilateral phaeochromocytoma and later developed an endolymphatic sac tumour at 19 years. A right phaeochromocytoma was found in a 12-year-old girl who was screened from the age of 4 years and in a 13-year-old boy screened from 5 years of age. All children were asymptomatic at the time of diagnosis. These families demonstrate that clinical screening of children at risk of VHL can detect tumours before the first symptoms arise with a consequent reduction in morbidity. These observations strongly support the recommendation to undertake screening of the children of VHL patients.
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              Renal Cell Carcinoma

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                Author and article information

                Contributors
                Journal
                Urol Case Rep
                Urol Case Rep
                Urology Case Reports
                Elsevier
                2214-4420
                12 March 2016
                May 2016
                12 March 2016
                : 6
                : 27-29
                Affiliations
                [a ]Department of Urology, Cantonal Hospital Aarau, Aarau, Switzerland
                [b ]SCI Center and Research, Neuro-Urology, Balgrist University Hospital, Zurich, Switzerland
                [c ]Department of Urology, University Hospital Basel, Basel, Switzerland
                [d ]Institute of Pathology, University Hospital Basel, Basel, Switzerland
                [e ]Department of Urology, Cantonal Hospital Baselland, Liestal, Switzerland
                Author notes
                []Corresponding author. Department of Urology, Cantonal Hospital Aarau, Tellstrasse 25, 5001 Aarau, Switzerland. Tel.: +41 62 838 64 80; fax: +41 62 838 47 53. matthias.walter@ 123456ksa.ch
                Article
                S2214-4420(16)30007-9
                10.1016/j.eucr.2016.02.005
                4855903
                27169022
                c0eaacea-d93b-4342-9585-97915fd8bef4
                © 2016 The Authors

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                : 17 January 2016
                : 7 February 2016
                : 10 February 2016
                Categories
                Oncology

                biomolecular and immunohistochemistry analysis,renal cell carcinoma,von hippel-lindau,young adults

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