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Molecular Characterization of Renal Cell Carcinoma

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Book cover Renal Cell Carcinoma

Abstract

Renal cell carcinoma (RCC) is a heterogeneous disease that includes several histologically distinct subtypes. The molecular genetic defects that occur in sporadic adult renal cell carcinoma are extensive and complex ranging from single DNA changes, to large chromosomal defects, to signature disruptions in the transcription of hundreds of genes. These changes are often shared among each histological RCC subtype, illustrating the significance of these genetic changes to the disease phenotype. Furthermore, epigenetics changes such as global change in gene transcription can be used to accurately differentiate between even the rarest forms of RCC. All of the genetic and epigenetic changes help define the diagnosis and staging of RCC, as well as highlight potential therapeutic targets for the disease. This chapter gives an overview of the most common genetic abnormalities that occur in clear cell, papillary, and chromophobe subtypes of RCC. We will discuss the various molecular changes that occur within each histological subtype and how they are used to improve diagnosis and treatment of RCC.

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Abbreviations

BAC:

Bacterial artificial chromosome

BHDS:

Birt-Hogg-Dubé syndrome

ccRCC:

Clear cell renal cell carcinomas

CGH:

Comparative genomic hybridization

EPO:

Epoetin

FH:

Fumarate hydratase

FISH:

Fluorescence in situ hybridization

FLCN:

Folliculin

GLUT1:

Glucose transporter

GSEA:

Gene set enrichment analysis

H3K4Me3:

Histone H3 lysine 4 trimethylation

HGF:

Hepatocyte growth factor

HIF:

Hypoxia-inducible factor

HLRCC:

Hereditary leiomyomatosis and renal cancer

HPRC:

Hereditary papillary renal carcinoma

IL2:

Interleukin-2

LOH:

Loss of heterozygosity

LOX:

Lysyl oxidase

LRRK2:

Leucine-rich repeat kinase 2

OXPHOS:

Oxidative phosphorylation

PBRM1:

Polybromo-1 gene

PDGF:

Platelet-derived growth factor

RCC:

Renal cell carcinoma

RFLP:

Restriction fragment length polymorphisms

SNP:

Single-nucleotide polymorphism

VEGF:

Vascular endothelial growth factor

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Authors and Affiliations

  1. Van Andel Research Institute, 333 Bostwick Ave, NE, Grand Rapids, MI, 49503, USA

    Bin Tean Teh M.D., Ph.D. & Kyle Furge Ph.D.

  2. NCCS-VARI Translational Research Laboratory, National Cancer Centre and Duke-NUS Graduate Medical School, 11 Hospital Drive, Singapore, 169610, Singapore

    Leslie J. Farber Ph.D.

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  1. Bin Tean Teh M.D., Ph.D.
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  2. Leslie J. Farber Ph.D.
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  3. Kyle Furge Ph.D.
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Correspondence to Bin Tean Teh M.D., Ph.D. .

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Editors and Affiliations

  1. David Geffen School of Medicine at UCLA, Department of Medicine, Cedars-Sinai Medical Center, n/a, Los Angeles, 90095, California, USA

    Robert A. Figlin

  2. Lineberger Comprehensive Cancer Center, University of North Carolina, Campus Box 7295, Room 21-237, 218, Chapel Hill, 27599-7295, North Carolina, USA

    W. Kimryn Rathmell

  3. Taussig Cancer Institute, Department of Solid Tumor Oncology, Cleveland Clinic, 9500 Euclid Ave, CLEVELAND, 44195-0001, Ohio, USA

    Brian I. Rini

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Teh, B.T., Farber, L.J., Furge, K. (2012). Molecular Characterization of Renal Cell Carcinoma. In: Figlin, R., Rathmell, W., Rini, B. (eds) Renal Cell Carcinoma. Springer, Boston, MA. https://doi.org/10.1007/978-1-4614-2400-0_5

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