Clear cell renal cell carcinoma

From Compendium of Cancer Genome Aberrations
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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

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Rearrangements

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Mutations (SNV/INDEL)

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From Cosmic Mutated in >20%

Mutated in 10-20%

Mutated in 5-10%

Mutated in 2-5%

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