scholarly journals Familial Renal Cancer: Molecular Genetics and Surgical Management

2011 ◽  
Vol 2011 ◽  
pp. 1-11 ◽  
Author(s):  
Glen W. Barrisford ◽  
Eric A. Singer ◽  
Inger L. Rosner ◽  
W. Marston Linehan ◽  
Gennady Bratslavsky
Keyword(s):  
Surgical Management ◽  
Kidney Cancer ◽  
Renal Cancer ◽  
Genetic Basis ◽  
Renal Carcinoma ◽  
Systemic Disease ◽  
Genetic Alterations ◽  
Response To Therapy ◽  
Von Hippel Lindau ◽  
Hereditary Papillary Renal Carcinoma

Familial renal cancer (FRC) is a heterogeneous disorder comprised of a variety of subtypes. Each subtype is known to have unique histologic features, genetic alterations, and response to therapy. Through the study of families affected by hereditary forms of kidney cancer, insights into the genetic basis of this disease have been identified. This has resulted in the elucidation of a number of kidney cancer gene pathways. Study of these pathways has led to the development of novel targeted molecular treatments for patients affected by systemic disease. As a result, the treatments for families affected by von Hippel-Lindau (VHL), hereditary papillary renal carcinoma (HPRC), hereditary leiomyomatosis renal cell carcinoma (HLRCC), and Birt-Hogg-Dubé (BHD) are rapidly changing. We review the genetics and contemporary surgical management of familial forms of kidney cancer.

scholarly journals Precision Surgery and Kidney Cancer: Knowledge of Genetic Alterations Influences Surgical Management

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 261 ◽  
Author(s):  
Patrick T. Gomella ◽  
W. Linehan ◽  
Mark W. Ball
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Surgical Management ◽  
Kidney Cancer ◽  
Renal Cell ◽  
Management Strategies ◽  
Genetic Alterations ◽  
Cancer Knowledge ◽  
Biological Potential

Renal cell carcinoma is a term that represents multiple different disease processes, each driven by different genetic alterations, with distinct histology, and biological potential which necessitates divergent management strategies. This review discusses the genetic alterations seen in several forms of hereditary kidney cancer and how that knowledge can dictate when and how to intervene with a focus on the surgical management of these tumors.

Genetics and molecular biology of renal cancer

2017 ◽  
Author(s):  
Mariam Jafri ◽  
Eamonn R Maher
Keyword(s):  
Clinical Features ◽  
Kidney Cancer ◽  
Renal Cancer ◽  
Cancer Syndrome ◽  
Inherited Disorders ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Molecular Pathophysiology ◽  
Cancer Syndromes ◽  
Key Pathways

Renal cell carcinoma (RCC) is the exemplar of how the understanding of the molecular pathogenesis of rare inherited disorders can inform an understanding of the key pathways involved in the pathogenesis of sporadic cancer. In this chapter we describe the clinical and pathological features of the inherited kidney cancer syndromes: von Hippel Lindau disease (VHL); Birt-Hogg-Dube syndrome; hereditary leiomyomatosis and renal cancer syndrome; succinate dehydrogenase disorders; hereditary papillary renal cancer; and translocation-associated kidney cancer. Though individually rare, recognition of individuals with familial kidney cancer is important as they present specific clinical challenges to the urological surgeon because of their propensity to develop multicentric/bilateral tumours. Furthermore, different familial RCC predisposition syndromes are associated with different extra renal clinical features and have specific surveillance needs. Despite differences in clinical features, there is some overlap in the molecular pathophysiology between the disorders and these highlight the key signalling pathways for RCC oncogenesis.

scholarly journals Heading Towards a Possible Rebirth of the Induced Renal Cell Carcinoma Models?

Cancers ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 598
Author(s):  
Clarisse R. Mazzola ◽  
Domenico Ribatti
Keyword(s):  
Animal Model ◽  
Animal Models ◽  
Kidney Cancer ◽  
Renal Cancer ◽  
Renal Carcinoma ◽  
Renal Carcinogenesis ◽  
Cell Renal Carcinoma ◽  
Research Questions ◽  
New Research ◽  
Made In

Introduction: Animal models are interesting tools to improve our knowledge of the pathophysiological processes underlying kidney cancer development. Recent advances have been made in the understanding of the genetic founding events underlying clear cell renal carcinoma. The aim of this paper was to review and discuss the characteristics of all the induced animal models of renal carcinogenesis that have been described in the scientific literature to date and to see if and how they could regain some use in the light of the latest discoveries. Methods: The authors reviewed all the papers available in PubMed regarding induced animal models of renal carcinogenesis. From this perspective, the keywords “induced”, “animal model”, and “renal cancer” were used in PubMed’s search engine. Another search was done using the keywords “induced”, “animal model”, and “kidney cancer”. PRISMA recommendations were used to develop the literature review. Results: Seventy-eight studies were included in this review. Results were presented depending on the mechanisms used to induce carcinogenesis in each model: induction by carcinogens, hormones, viral induction, or induction by other agents. Discussion focused on the possibility to rethink these different induced animal models and use them to answer new research questions. Conclusion: Many induced animal models have been developed in the past to study renal cancer. While these models seemed unable to yield new knowledge, the latest advances in the understanding of the genetics behind renal carcinogenesis could well bring the models back to the forefront.

622: Von Hippel-Lindau Inactivation Downregulates the Cell-Cell Adhesion Molecule E Cadherin in Renal Cancer Cells

2005 ◽  
Vol 173 (4S) ◽  
pp. 170-170
Author(s):  
Maxine G. Tran ◽  
Miguel A. Esteban ◽  
Peter D. Hill ◽  
Ashish Chandra ◽  
Tim S. O'Brien ◽  
...  
Keyword(s):  
Cell Adhesion ◽  
Cancer Cells ◽  
Renal Cancer ◽  
Adhesion Molecule ◽  
Cell Adhesion Molecule ◽  
Von Hippel Lindau ◽  
E Cadherin ◽  
Cell Cell

scholarly journals Cooperative Blockade of CK2 and ATM Kinases Drives Apoptosis in VHL-Deficient Renal Carcinoma Cells through ROS Overproduction

Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 576
Author(s):  
Sofia Giacosa ◽  
Catherine Pillet ◽  
Irinka Séraudie ◽  
Laurent Guyon ◽  
Yann Wallez ◽  
...  
Keyword(s):  
High Throughput Screening ◽  
Renal Carcinoma ◽  
Kinase Inhibitors ◽  
Ex Vivo ◽  
Cancer Therapeutics ◽  
Carcinoma Cells ◽  
Wild Type ◽  
Cell Renal Cell Carcinoma ◽  
Von Hippel Lindau ◽  
Renal Carcinoma Cells

Kinase-targeted agents demonstrate antitumor activity in advanced metastatic clear cell renal cell carcinoma (ccRCC), which remains largely incurable. Integration of genomic approaches through small-molecules and genetically based high-throughput screening holds the promise of improved discovery of candidate targets for cancer therapy. The 786-O cell line represents a model for most ccRCC that have a loss of functional pVHL (von Hippel-Lindau). A multiplexed assay was used to study the cellular fitness of a panel of engineered ccRCC isogenic 786-O VHL− cell lines in response to a collection of targeted cancer therapeutics including kinase inhibitors, allowing the interrogation of over 2880 drug–gene pairs. Among diverse patterns of drug sensitivities, investigation of the mechanistic effect of one selected drug combination on tumor spheroids and ex vivo renal tumor slice cultures showed that VHL-defective ccRCC cells were more vulnerable to the combined inhibition of the CK2 and ATM kinases than wild-type VHL cells. Importantly, we found that HIF-2α acts as a key mediator that potentiates the response to combined CK2/ATM inhibition by triggering ROS-dependent apoptosis. Importantly, our findings reveal a selective killing of VHL-deficient renal carcinoma cells and provide a rationale for a mechanism-based use of combined CK2/ATM inhibitors for improved patient care in metastatic VHL-ccRCC.

scholarly journals Mitochondrial Syndromes Revisited

2021 ◽  
Vol 10 (6) ◽  
pp. 1249
Author(s):  
Daniele Orsucci ◽  
Elena Caldarazzo Ienco ◽  
Andrea Rossi ◽  
Gabriele Siciliano ◽  
Michelangelo Mancuso
Keyword(s):  
Clinical Trials ◽  
Genetic Basis ◽  
Phenotypic Variability ◽  
Mitochondrial Diseases ◽  
Genetic Alterations ◽  
Mitochondrial Disorders ◽  
Single Mutation ◽  
Multicenter Studies ◽  
Future Studies ◽  
Clinical Syndromes

In the last ten years, the knowledge of the genetic basis of mitochondrial diseases has significantly advanced. However, the vast phenotypic variability linked to mitochondrial disorders and the peculiar characteristics of their genetics make mitochondrial disorders a complex group of disorders. Although specific genetic alterations have been associated with some syndromic presentations, the genotype–phenotype relationship in mitochondrial disorders is complex (a single mutation can cause several clinical syndromes, while different genetic alterations can cause similar phenotypes). This review will revisit the most common syndromic pictures of mitochondrial disorders, from a clinical rather than a molecular perspective. We believe that the new phenotype definitions implemented by recent large multicenter studies, and revised here, may contribute to a more homogeneous patient categorization, which will be useful in future studies on natural history and clinical trials.

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