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      Genetic and Chromosomal Aberrations and Their Clinical Significance in Renal Neoplasms

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          Abstract

          The most common form of malignant renal neoplasms is renal cell carcinoma (RCC), which is classified into several different subtypes based on the histomorphological features. However, overlaps in these characteristics may present difficulties in the accurate diagnosis of these subtypes, which have different clinical outcomes. Genomic and molecular studies have revealed unique genetic aberrations in each subtype. Knowledge of these genetic changes in hereditary and sporadic renal neoplasms has given an insight into the various proteins and signalling pathways involved in tumour formation and progression. In this review, the genetic aberrations characteristic to each renal neoplasm subtype are evaluated along with the associated protein products and affected pathways. The potential applications of these genetic aberrations and proteins as diagnostic tools, prognostic markers, or therapeutic targets are also assessed.

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          Cancer genes and the pathways they control.

          Bert Vogelstein, Kenneth W. Kinzler (2004)
          The revolution in cancer research can be summed up in a single sentence: cancer is, in essence, a genetic disease. In the last decade, many important genes responsible for the genesis of various cancers have been discovered, their mutations precisely identified, and the pathways through which they act characterized. The purposes of this review are to highlight examples of progress in these areas, indicate where knowledge is scarce and point out fertile grounds for future investigation.
          Article 0 comments Cited 952 times – based on 0 reviews     Review now
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            BAP1 loss defines a new class of renal cell carcinoma

            Samuel Peña-Llopis, Silvia Vega-Rubín-de-Celis, Arnold Liao … (2012)
            The molecular pathogenesis of renal cell carcinoma (RCC) is poorly understood. Whole-genome and exome sequencing followed by innovative tumorgraft analyses (to accurately determine mutant allele ratios) identified several putative two-hit tumor suppressor genes including BAP1. BAP1, a nuclear deubiquitinase, is inactivated in 15% of clear-cell RCCs. BAP1 cofractionates with and binds to HCF-1 in tumorgrafts. Mutations disrupting the HCF-1 binding motif impair BAP1-mediated suppression of cell proliferation, but not H2AK119ub1 deubiquitination. BAP1 loss sensitizes RCC cells in vitro to genotoxic stress. Interestingly, BAP1 and PBRM1 mutations anticorrelate in tumors (P=3×10−5), and combined loss of BAP1 and PBRM1 in a few RCCs was associated with rhabdoid features (q=0.0007). BAP1 and PBRM1 regulate seemingly different gene expression programs, and BAP1 loss was associated with high tumor grade (q=0.0005). Our results establish the foundation for an integrated pathological and molecular genetic classification of RCC, paving the way for subtype-specific treatments exploiting genetic vulnerabilities.
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              The somatic genomic landscape of chromophobe renal cell carcinoma.

              Caleb F. Davis, Christopher Ricketts, Min Wang … (2014)
              We describe the landscape of somatic genomic alterations of 66 chromophobe renal cell carcinomas (ChRCCs) on the basis of multidimensional and comprehensive characterization, including mtDNA and whole-genome sequencing. The result is consistent that ChRCC originates from the distal nephron compared with other kidney cancers with more proximal origins. Combined mtDNA and gene expression analysis implicates changes in mitochondrial function as a component of the disease biology, while suggesting alternative roles for mtDNA mutations in cancers relying on oxidative phosphorylation. Genomic rearrangements lead to recurrent structural breakpoints within TERT promoter region, which correlates with highly elevated TERT expression and manifestation of kataegis, representing a mechanism of TERT upregulation in cancer distinct from previously observed amplifications and point mutations.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Biomed Res Int
                Journal ID (iso-abbrev): Biomed Res Int
                Journal ID (publisher-id): BMRI
                Title: BioMed Research International
                Publisher: Hindawi Publishing Corporation
                ISSN (Print): 2314-6133
                ISSN (Electronic): 2314-6141
                Publication date (Print): 2015
                Publication date (Electronic): 13 September 2015
                Volume: 2015
                Electronic Location Identifier: 476508
                Affiliations
                1Department of Surgery, Faculty of Medicine, University of Malaya, Jalan Universiti, Kuala Lumpur, Malaysia
                2Centre for Kidney Disease Research, University of Queensland, Translational Research Institute, 37 Kent Street, Brisbane QLD 4102, Australia
                3University of Malaya Cancer Research Institute, University of Malaya, Jalan Universiti, Kuala Lumpur, Malaysia
                4Department of Pathology, Faculty of Medicine, University of Malaya, Jalan Universiti, Kuala Lumpur, Malaysia
                Author notes
                *Retnagowri Rajandram: rretnagowri@ 123456gmail.com

                Academic Editor: Konstantinos Arnaoutakis

                Article
                DOI: 10.1155/2015/476508
                PMC ID: 4584050
                PubMed ID: 26448938
                SO-VID: f5818e77-ca19-4c60-988f-fa341d765288
                Copyright © Copyright © 2015 Ning Yi Yap et al.
                License:

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 23 January 2015
                Date revision received : 23 May 2015
                Date accepted : 25 May 2015
                Categories
                Subject: Review Article

                Data availability:

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