Clear cell renal cell carcinoma

Contributors

Daynna Wolff PhD FACMG

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

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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Clinical Significance

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Diagnosis

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Prognosis

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Therapeutics

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Familial Forms

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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

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