Abstract
Fifty years ago, the Eker rat was identified as the first animal model of hereditary renal adenoma and carcinoma [1], with histopathology resembling human renal carcinoma [2]. Ten years ago, a mutation in the TSC2 gene was identified in the Eker rat at Fox Chase Cancer Center by Yeung and Knudson [3], and in Tokyo by Kobayashi and Hino [4]. The literature contains dozens of reports of renal cell carcinoma (RCC) in tuberous sclerosis complex (TSC) patients, including tumors in children as young as five and one report in an infant. Despite these facts, the association between TSC and RCC is under-recognized, and sometimes completely omitted from discussions of inherited renal carcinoma. Here, we will review the clinical association of RCC in TSC, consider the factors that have led to its under-emphasis within the RCC field, address the cellular and biochemical mechanisms that may contribute to RCC in cells with TSC1 or TSC2 mutations, and finally discuss the ways in which the TSC signaling pathways may be linked to sporadic RCC in the general population.
Keywords: tuberous sclerosis complex, angiomyolipomas, renal cell carcinomas, polycystic kidney disease (pkd), birt-hogg-dube syndrome (bhd)
Current Molecular Medicine
Title: The Genetic Basis of Kidney Cancer: Why is Tuberous Sclerosis Complex Often Overlooked?
Volume: 4 Issue: 8
Author(s): Elizabeth Petri Henske
Affiliation:
Keywords: tuberous sclerosis complex, angiomyolipomas, renal cell carcinomas, polycystic kidney disease (pkd), birt-hogg-dube syndrome (bhd)
Abstract: Fifty years ago, the Eker rat was identified as the first animal model of hereditary renal adenoma and carcinoma [1], with histopathology resembling human renal carcinoma [2]. Ten years ago, a mutation in the TSC2 gene was identified in the Eker rat at Fox Chase Cancer Center by Yeung and Knudson [3], and in Tokyo by Kobayashi and Hino [4]. The literature contains dozens of reports of renal cell carcinoma (RCC) in tuberous sclerosis complex (TSC) patients, including tumors in children as young as five and one report in an infant. Despite these facts, the association between TSC and RCC is under-recognized, and sometimes completely omitted from discussions of inherited renal carcinoma. Here, we will review the clinical association of RCC in TSC, consider the factors that have led to its under-emphasis within the RCC field, address the cellular and biochemical mechanisms that may contribute to RCC in cells with TSC1 or TSC2 mutations, and finally discuss the ways in which the TSC signaling pathways may be linked to sporadic RCC in the general population.
Export Options
About this article
Cite this article as:
Henske Petri Elizabeth, The Genetic Basis of Kidney Cancer: Why is Tuberous Sclerosis Complex Often Overlooked?, Current Molecular Medicine 2004; 4 (8) . https://dx.doi.org/10.2174/1566524043359610
DOI https://dx.doi.org/10.2174/1566524043359610 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
Related Articles
-
An Update on Autoinflammatory Diseases
Current Medicinal Chemistry Nutritional Antioxidants and Adaptive Cell Responses: An Update
Current Molecular Medicine The Urokinase Receptor in the Central Nervous System
CNS & Neurological Disorders - Drug Targets Neutrophil MiRNA-128-3p is Decreased During Active Phase of Granulomatosis with Polyangiitis
Current Genomics Delineation of Current Development of Antimitotic Compounds Targeting Cytoskeletal Protein Tubulin and Microtubule in the Cancer Therapy
Current Chemical Biology The Potential Anti-Tumorigenic and Anti-Metastatic Side of the Proprotein Convertases Inhibitors
Recent Patents on Anti-Cancer Drug Discovery Endovascular Therapeutic Embolisation: An Overview of Occluding Agents and their Effects on Embolised Tissues
Current Vascular Pharmacology Recent Advances in Inorganic Nanoparticle-Based Drug Delivery Systems
Mini-Reviews in Medicinal Chemistry Physcion and Physcion 8-O-β-D-glucopyranoside: Natural Anthraquinones with Potential Anticancer Activities
Current Drug Targets Frontier Research Applications of Electro-spun Nanomaterials in Healthcare
Current Nanomaterials Potential Role of <i>In Vitro-In Vivo</i> Correlations (IVIVC) for the Development of Plant-Derived Anticancer Drugs
Current Drug Targets Biophysical Modeling and Associated Signal Modeling in Functional Magnetic Resonance Imaging
Neuroscience and Biomedical Engineering (Discontinued) Discovery of New Biomarkers of Cancer Using Proteomics Technology
Current Cancer Therapy Reviews Targeting of Adhesion Molecules as a Therapeutic Strategy in Multiple Myeloma
Current Cancer Drug Targets Cancer Nanotechnology: Emerging Role of Gold Nanoconjugates
Anti-Cancer Agents in Medicinal Chemistry Single Nucleotide Polymorphisms as the Efficient Prognostic Markers in Breast Cancer
Current Cancer Drug Targets B7-H3 Immune Checkpoint Protein in Human Cancer
Current Medicinal Chemistry Melatonin-mitochondria Interplay in Health and Disease
Current Topics in Medicinal Chemistry Anticancer Antifolates: Current Status and Future Directions
Current Pharmaceutical Design Redox Signaling Pathways Involved in Neuronal Ischemic Preconditioning
Current Neuropharmacology