Difference between revisions of "Clear cell renal cell carcinoma"

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== Genomic Gain/Loss/LOH ==
 
== Genomic Gain/Loss/LOH ==
  
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[[File:TCGA.RCC.png|1000px|[[KRCC interactive copy number]]]]
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<imagemap>
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Image:TCGA.RCC.png | 1000px
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default [[KRCC interactive copy number|Explore the data interactively!]]
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</imagemap>
  
 
The image shows the cumulative copy number of 528 RCC samples from the TCGA (reference needed).  
 
The image shows the cumulative copy number of 528 RCC samples from the TCGA (reference needed).  

Revision as of 11:55, 9 March 2016

Contributors

Daynna Wolff PhD FACMG Yajuan Liu, PhD Rajyasree Emmadi, MD

Tumor Type

Renal Cell Carcinoma

Tumor Classification

Clear Cell RCC

This tumor type accounts for 70-75% of all renal cell carcinoma cases (citation needed).

Description

Malignant epithelial cells with clear cytoplasm and a compact-alveolar (nested) or acinar growth pattern interspersed with intricate, arborizing vasculature. A variable proportion of cells with granular eosinophilic cytoplasm may be present. Infrequently, clear cell renal cell carcinoma has a distinct tubular pattern and rarely a pseudopapillary architecture is focally present."

IHC Markers

Positive: vimentin, CD10, RCC, PAX2, PAX8, CA-IX, EMA

Negative: CK7, CD117, AMACR, E-cadherin

Genomic Gain/Loss/LOH

<imagemap> Image:TCGA.RCC.png | 1000px default Explore the data interactively!


</imagemap>

The image shows the cumulative copy number of 528 RCC samples from the TCGA (reference needed). Click the image for an interactive version of the data.

Chromosome Gain/Loss/Amp Region
1 Loss 1p
3 Loss 3p (3p21, 3p25 and/or 3p13-p14)
4 Loss 4q
5 Gain 5q
8 Loss 8p
9 Loss 9p, 9q
14 Loss 14q

Rearrangements

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Mutations (SNV/INDEL)

From Cosmic Mutated in >20%

VHL (43%), PBRM1 (30%)

Mutated in 10-20%

BAP1 (11%), SETD2 (11%)

Mutated in 5-10%

KDMC5 (6%), TP53 (5%)

Mutated in 2-5%

PTEN, KMT2C, AKAP9, KMT2D, TERT, RANBP2, PIK3CA, ATM, ARID1A, CDKN2A, SRGAP3, SMARCA4, MLLT4, TCF12

Note that additional rare gene mutations are listed by Randall et al (2014) [1]

mtDNA

Epigenomics (methylation)

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Main Pathways Involved

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Diagnosis

Deletion of 3p (bands) or LOH for 3p

Prognosis

Loss of 14, loss of 9p, loss of 18q and highly complex genotype are associated with high risk histological features and adverse clinical outcome, also significantly associated with high risk histologic features: loss of 1p, 4p, 9q, 15q, 16q, 17p, 18p, 21q, 22q and gains of 3q, 5p, 7p, 7q, 17q [2]. Losses of 1p, 4p, 4q, 8p, 9p, 9q, 13q, 14q and 18q correlate with higher grade and/or stage of the tumors [3][4] [5][6] [7] and loss of 4, 9p and 14q have been reported as independent prognostic factors for survival in ccRCC[8][9][10][11][12]

Therapeutics

Metastatic disease: loss of 21q, 22q

Familial Forms

von Hippel-Lindau disease (VHL; 3p25)

Hereditary clear cell RCC ( DIRC1, DIRC2, DIRC3, FHIT, RNF139)

Birt-Hogg-Dube syndrome (FLCN 17p11.2)

Links

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References

  1. ↑ Randall JM et al. (2014). Molecular aberrations in clear cell renal cell carcinoma. Cancer Metastasis Rev (2014) 33:1109–1124 PMID:25365943
  2. ↑ Wolff et al.
  3. ↑ Zhang et al, Adv Bioinform, 2010
  4. ↑ Wilhelm et al, Cancer res 2002; Moore et al, Oncogenesis, 2012
  5. ↑ Arai et al, Clin Canc Res 2008
  6. ↑ Gunawan et al. Cancer Res 2001
  7. ↑ Monzon et al, Mod Path 2011
  8. ↑ Zhang 2010
  9. ↑ Monzon 2011
  10. ↑ Klatte 2009
  11. ↑ Arai 2008
  12. ↑ Alimov et al Int J Oncol 2004; Moch et al 1996
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