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%
Mutated in 10-20%
Mutated in 5-10%
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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