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Genetics of Inherited Kidney Cancer
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Genetics of Inherited Kidney Cancer

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (20 September 2020) | Viewed by 21797

Special Issue Editor

Dr. Laura S. Schmidt

E-Mail Website
Guest Editor
1. Basic Science Program, Frederick National Laboratory for Cancer Research, Frederick, MD 21240, USA
2. Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 21240, USA
Interests: inherited renal cancer syndromes; animal models of human cancer; Birt-Hogg-Dubé syndrome; cancer genetics; kidney cancer

Special Issue Information

Dear Colleagues,

The incidence of kidney cancer (renal cell carcinoma) is increasing worldwide with more than 400,000 new cases estimated per year. Risk factors, such as obesity, hypertension, tobacco smoking, and certain occupational exposures, are well-documented, but individuals with a family history of kidney cancer have a 2.5-fold greater chance of developing kidney cancer during their lifetime and represent about 4% of all kidney cancer cases. Kidney cancer is not a single disease but is comprised of a number of different subtypes classified by histology. Over the past two and a half decades, studies of families with inherited kidney cancer have led to the identification of a number of hereditary renal cancer syndromes, each with a specific genetic alteration that results in dysregulation of metabolic pathways that play a role in kidney cancer development. The discovery of causative genes for these syndromes has led to the development of diagnostic genetic tests for presymptomatic diagnosis of affected individuals and better prognosis for at-risk patients through lifelong surveillance. Understanding the metabolic pathways dysregulated in these renal cancer syndromes will inform the intelligent design of molecularly targeted therapies for treatment of kidney cancer patients.

In this Special Issue, we invite authors to discuss the genetics and genomics of familial kidney cancer including but not limited to currently known and genetically defined inherited renal cancer syndromes (Von Hippel-Lindau disease, hereditary papillary renal carcinoma, Birt-Hogg-Dubé syndrome, hereditary leiomyomatosis and renal cell carcinoma, succinate dehydrogenase-associated renal carcinoma, BAP1-associated tumor predisposition syndrome, tuberous sclerosis complex, and MITF-associated renal cell carcinoma) and non-syndromic but genetically undefined familial kidney cancer. We welcome reviews, mini-reviews, novel methodological approaches to identify kidney cancer susceptibility genes and original research articles.

Dr. Laura S. Schmidt
Guest Editor

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Inherited renal cancer syndromes
  • Von Hippel–Lindau disease
  • Hereditary leiomyomatosis and renal cell carcinoma
  • Hereditary papillary renal carcinoma
  • Birt–Hogg–Dubé syndrome
  • Succinate dehydrogenase-associated renal cell carcinoma
  • Tuberous sclerosis complex
  • Chromosome 3 translocation renal carcinoma
  • BAP1-associated tumor predisposition syndrome
  • MITF-associated renal cell carcinoma
  • Renal cancer susceptibility genes

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Published Papers (5 papers)

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Research

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11 pages, 1644 KiB  
Article
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease
by Hugh Furness, Louay Salfity, Johanna Devereux, Dorothy Halliday, Helen Hanson, Deborah M. Ruddy, UK VHL Study Group, Neha Shah, George Sultana, Emma R. Woodward, Richard N. Sandford, Katie M. Snape and Eamonn R. Maher
Genes 2021, 12(9), 1414; https://doi.org/10.3390/genes12091414 - 15 Sep 2021
Cited by 4 | Viewed by 2504
Abstract
Haemangioblastomas are rare, highly vascularised tumours that typically occur in the cerebellum, brain stem and spinal cord. Up to a third of individuals with a haemangioblastoma will have von Hippel–Lindau (VHL) disease. Individuals with haemangioblastoma and underlying VHL disease present, on average, at [...] Read more.
Haemangioblastomas are rare, highly vascularised tumours that typically occur in the cerebellum, brain stem and spinal cord. Up to a third of individuals with a haemangioblastoma will have von Hippel–Lindau (VHL) disease. Individuals with haemangioblastoma and underlying VHL disease present, on average, at a younger age and frequently have a personal or family history of VHL disease-related tumours (e.g., retinal or central nervous system (CNS) haemangioblastomas, renal cell carcinoma, phaeochromocytoma). However, a subset present an apparently sporadic haemangioblastoma without other features of VHL disease. To detect such individuals, it has been recommended that genetic testing and clinical/radiological assessment for VHL disease should be offered to patients with a haemangioblastoma. To assess “real-world” clinical practice, we undertook a national survey of clinical genetics centres. All participating centres responded that they would offer genetic testing and a comprehensive assessment (ophthalmological examination and CNS and abdominal imaging) to a patient presenting with a CNS haemangioblastoma. However, for individuals who tested negative, there was variability in practice with regard to the need for continued follow-up. We then reviewed the results of follow-up surveillance in 91 such individuals seen at four centres. The risk of developing a potential VHL-related tumour (haemangioblastoma or RCC) was estimated at 10.8% at 10 years follow-up. The risks of developing a recurrent haemangioblastoma were higher in those who presented <40 years of age. In the light of these and previous findings, we propose an age-stratified protocol for surveillance of VHL-related tumours in individuals with apparently isolated haemangioblastoma. Full article
(This article belongs to the Special Issue Genetics of Inherited Kidney Cancer)
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Review

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7 pages, 2015 KiB  
Review
MiT/TFE Family Renal Cell Carcinoma
by Jinglong Tang and Masaya Baba
Genes 2023, 14(1), 151; https://doi.org/10.3390/genes14010151 - 5 Jan 2023
Cited by 9 | Viewed by 4225
Abstract
The microphthalmia-associated transcription factor/transcription factor E (MiT/TFE) family of transcription factors are evolutionarily conserved, basic helix–loop–helix leucine zipper (bHLH-Zip) transcription factors, consisting of MITF, TFEB, TFE3, and TFEC. MiT/TFE proteins, with the exception of TFEC, are involved in the development of renal cell [...] Read more.
The microphthalmia-associated transcription factor/transcription factor E (MiT/TFE) family of transcription factors are evolutionarily conserved, basic helix–loop–helix leucine zipper (bHLH-Zip) transcription factors, consisting of MITF, TFEB, TFE3, and TFEC. MiT/TFE proteins, with the exception of TFEC, are involved in the development of renal cell carcinoma (RCC). Most of the MiT/TFE transcription factor alterations seen in sporadic RCC cases of MiT family translocation renal cell carcinoma (tRCC) are chimeric proteins generated by chromosomal rearrangements. These chimeric MiT/TFE proteins retain the bHLH-Zip structures and act as oncogenic transcription factors. The germline variant of MITF p.E318K has been reported as a risk factor for RCC. E 318 is present at the SUMOylation consensus site of MITF. The p.E318K variant abrogates SUMOylation on K 316, which results in alteration of MITF transcriptional activity. Only a few cases of MITF p.E318K RCC have been reported, and their clinical features have not yet been fully described. It would be important for clinicians to recognize MITF p.E318K RCC and consider MITF germline testing for undiagnosed familial RCC cases. This review outlines the involvement of the MiT/TFE transcription factors in RCC, both in sporadic and hereditary cases. Further elucidation of the molecular function of the MiT/TFE family is necessary for better diagnosis and treatment of these rare diseases. Full article
(This article belongs to the Special Issue Genetics of Inherited Kidney Cancer)
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13 pages, 3390 KiB  
Review
Renal Cell Carcinoma in Tuberous Sclerosis Complex
by Elizabeth P. Henske, Kristine M. Cornejo and Chin-Lee Wu
Genes 2021, 12(10), 1585; https://doi.org/10.3390/genes12101585 - 8 Oct 2021
Cited by 41 | Viewed by 5656
Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder in which renal manifestations are prominent. There are three major renal lesions in TSC: angiomyolipomas, cysts, and renal cell carcinoma (RCC). Major recent advances have revolutionized our understanding of TSC-associated RCC, including two series [...] Read more.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder in which renal manifestations are prominent. There are three major renal lesions in TSC: angiomyolipomas, cysts, and renal cell carcinoma (RCC). Major recent advances have revolutionized our understanding of TSC-associated RCC, including two series that together include more than 100 TSC-RCC cases, demonstrating a mean age at onset of about 36 years, tumors in children as young as 7, and a striking 2:1 female predominance. These series also provide the first detailed understanding of the pathologic features of these distinctive tumors, which include chromophobe-like features and eosinophilia, with some of the tumors unclassified. This pathologic heterogeneity is distinctive and reminiscent of the pathologic heterogeneity in Birt–Hogg–Dube-associated RCC, which also includes chromophobe-like tumors. Additional advances include the identification of sporadic counterpart tumors that carry somatic TSC1/TSC2/mTOR mutations. These include unclassified eosinophilic tumors, eosinophilic solid cystic RCC (ESC-RCC), and RCC with leiomyomatous stroma (RCCLMS). A variety of epithelial renal neoplasms have been identified both in patients with tuberous sclerosis complex (TSC) and in the nonsyndromic setting associated with somatic mutations in the TSC1 and TSC2 genes. Interestingly, whether tumors are related to a germline or somatic TSC1/2 mutation, these tumors often display similar morphologic and immunophenotypic features. Finally, recent work has identified molecular links between TSC and BHD-associated tumors, involving the TFEB/TFE3 transcription factors. Full article
(This article belongs to the Special Issue Genetics of Inherited Kidney Cancer)
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17 pages, 783 KiB  
Review
Molecular and Metabolic Subtypes in Sporadic and Inherited Clear Cell Renal Cell Carcinoma
by Maria F. Czyzyk-Krzeska, Julio A. Landero Figueroa, Shuchi Gulati, John T. Cunningham, Jarek Meller, Behrouz ShamsaeI, Bhargav Vemuri and David R. Plas
Genes 2021, 12(3), 388; https://doi.org/10.3390/genes12030388 - 9 Mar 2021
Cited by 12 | Viewed by 4709
Abstract
The promise of personalized medicine is a therapeutic advance where tumor signatures obtained from different omics platforms, such as genomics, transcriptomics, proteomics, and metabolomics, in addition to environmental factors including metals and metalloids, are used to guide the treatments. Clear cell renal carcinoma [...] Read more.
The promise of personalized medicine is a therapeutic advance where tumor signatures obtained from different omics platforms, such as genomics, transcriptomics, proteomics, and metabolomics, in addition to environmental factors including metals and metalloids, are used to guide the treatments. Clear cell renal carcinoma (ccRCC), the most common type of kidney cancer, can be sporadic (frequently) or genetic (rare), both characterized by loss of the von Hippel-Lindau (VHL) gene that controls hypoxia inducible factors. Recently, several genomic subtypes were identified with different prognoses. Transcriptomics, proteomics, metabolomics and metallomic data converge on altered metabolism as the principal feature of the disease. However, in view of multiple biochemical alterations and high level of tumor heterogeneity, identification of clearly defined subtypes is necessary for further improvement of treatments. In the future, single-cell combined multi-omics approaches will be the next generation of analyses gaining deeper insights into ccRCC progression and allowing for design of specific signatures, with better prognostic/predictive clinical applications. Full article
(This article belongs to the Special Issue Genetics of Inherited Kidney Cancer)
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9 pages, 1383 KiB  
Review
Precision Surgery and Kidney Cancer: Knowledge of Genetic Alterations Influences Surgical Management
by Patrick T. Gomella, W. Marston Linehan and Mark W. Ball
Genes 2021, 12(2), 261; https://doi.org/10.3390/genes12020261 - 11 Feb 2021
Cited by 19 | Viewed by 4063
Abstract
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Genetics of Inherited Kidney Cancer)
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