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
-
Withdrawal Notice: Role, Significance and Association of microRNA-10a/b in Physiology of Cancer
MicroRNA Potential Role of Natural Compounds as Anti-Angiogenic Agents in Cancer
Current Vascular Pharmacology Functionalized Nanocarriers for Enhanced Bioactive Delivery to Squamous Cell Carcinomas: Targeting Approaches and Related Biopharmaceutical Aspects
Current Pharmaceutical Design Radiolabeled Probes Targeting G-Protein-Coupled Receptors for Personalized Medicine
Current Pharmaceutical Design Hypothyroidism and Endothelial Function: A Marker of Early Atherosclerosis?
Recent Patents on Endocrine, Metabolic & Immune Drug Discovery Cancer Stem Cells: The ‘Achilles Heel’ of Chemo-Resistant Tumors
Recent Patents on Anti-Cancer Drug Discovery The Influence of Diabetes in the Pathogenesis and the Clinical Course of Hepatocellular Carcinoma: Recent Findings and New Perspectives
Current Diabetes Reviews Metabolism of Direct-acting Antiviral Agents (DAAs) in Hepatitis C Therapy: A Review of the Literature
Current Drug Metabolism Ferritin and Percent Transferrin Saturation Levels Predict Type 2 Diabetes Risk and Cardiovascular Disease Outcomes
Current Diabetes Reviews Targeting Indoleamine 2,3-dioxygenase (IDO) to Counteract Tumour- Induced ImmuneDysfunction: From Biochemistry to Clinical Development
Endocrine, Metabolic & Immune Disorders - Drug Targets GDF 15 - A Novel Biomarker in the Offing for Heart Failure
Current Cardiology Reviews Antigenic Peptide Vaccination: Provoking Immune Response and Clinical Benefit for Cancer
Current Immunology Reviews (Discontinued) Recent Patents on the Development of c-Met Kinase Inhibitors
Recent Patents on Anti-Cancer Drug Discovery Recent Advances in Coumarins and 1-Azacoumarins as Versatile Biodynamic Agents
Current Medicinal Chemistry Recent Advances in the Synthesis and Development of Curcumin, its Combinations and Formulations and Curcumin-like Compounds as Anti-infective Agents
Current Medicinal Chemistry Antibodies as Anti-Infective Agents in Medicinal Chemistry
Anti-Infective Agents in Medicinal Chemistry Multiple Roles of Fibroblast Growth Factor 21 in Metabolism
Current Pharmaceutical Design Circulating Tumor Cells (CTCs) as a Liquid Biopsy Material and Drug Target
Current Drug Targets Sunitinib in the Treatment of Thyroid Cancer
Current Medicinal Chemistry Blood-Brain Barrier and Breast Cancer Resistance Protein: A Limit to the Therapy of CNS Tumors and Neurodegenerative Diseases
Anti-Cancer Agents in Medicinal Chemistry