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
-
Current Concepts and Future Directions in Radioimmunotherapy
Current Drug Discovery Technologies Immunotherapy with Tumor Vaccines for the Treatment of Malignant Gliomas
Current Drug Discovery Technologies Targeted Therapy Options for Treatment of Bone Metastases; Beyond Bisphosphonates
Current Pharmaceutical Design Recent Anticancer Cytotoxic Agents
Current Medicinal Chemistry - Anti-Cancer Agents The Influence of Ca<sup>2+</sup> and Zn<sup>2+</sup> on the Amyloid Fibril Formation by β-Casein
Protein & Peptide Letters The Influence of Cox-2 and Bioactive Lipids on Hematological Cancers
Current Angiogenesis (Discontinued) Voltage-Gated Ion Channels, New Targets in Anti-Cancer Research
Recent Patents on Anti-Cancer Drug Discovery Metastatic Brain Tumors: To Treat or Not to Treat, and with What?
Current Cancer Therapy Reviews Modulation of Carbonic Anhydrase 9 (CA9) in Human Brain Cancer
Current Pharmaceutical Design Piperine: Medicinal, Analytical and Therapeutics perspective
Current Bioactive Compounds <i>Nigella sativa</i> – A Functional Spice From A Pharaoh’s Tomb to Modern Healthcare
The Natural Products Journal A Molecular Link Between Diabetes and Breast Cancer: Therapeutic Potential of Repurposing Incretin-based Therapies for Breast Cancer
Current Cancer Drug Targets NONO-TFE3 Fusion Promotes Aerobic Glycolysis and Angiogenesis by Targeting <i>HIF1A</i> in <i>NONO-TFE3</i> Translocation Renal Cell Carcinoma
Current Cancer Drug Targets Mutant B-Raf Kinase Inhibitors as Anticancer Agents
Anti-Cancer Agents in Medicinal Chemistry Roles of Epithelial-Mesenchymal Transition in Cancer Drug Resistance
Current Cancer Drug Targets Inflammation and Antiangiogenesis in Cancer
Current Medicinal Chemistry Computational Insights into the Role of Glutathione in Oxidative Stress
Current Neurovascular Research Potential Non-coding RNAs from Microorganisms and their Therapeutic Use in the Treatment of Different Human Cancers
Current Gene Therapy Interleukin-15 in Gene Therapy of Cancer
Current Gene Therapy The CCL2/CCR2 Axis in the Pathogenesis of HIV-1 Infection: A New Cellular Target for Therapy?
Current Drug Targets