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
chr1 Loss: 1p
chr2
chr3 Loss: 3p (3p21, 3p25 and/or 3p13-p14)
chr4 Loss: 4q
chr5 Gain: 5q
chr6
chr7
chr8 Loss: 8p
chr9 Loss: 9p, 9q
chr10
chr11
chr12
chr13
chr14 Loss: 14q
chr15
chr16
chr17
chr18
chr19
chr20
chr21
chr22
X
Y
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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