Chromophobe renal cell carcinoma

From Compendium of Cancer Genome Aberrations
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Contributors

Daynna Wolff PhD FACMG Yajuan Liu, PhD Rajyasree Emmadi, MD Banumathy Gowrishankar, PhD Jane Houldsworth, PhD

Tumor Type

Renal Cell Carcinoma

Tumor Classification

Chromophobe Renal Cell Carcinoma

Description

Chromophobe Renal Cell Carcinoma derives from the intercalated cells of the collecting duct epithelium and accounts for ~5% of renal tumors (Diaz JI, Mora LB, Hakam A. The Mainz Classification of Renal Cell Tumors. Cancer Control. 1999 Nov;6(6):571-579).

IHC Markers

Positive: CD10 , CD117, E-cadherin, EMA, CK7, PAX8, PAX2, AMACR.

Negative: vimentin, RCC, CA-IX.

Genomic Gain/Loss/LOH

Chromosome Gain/Loss/Amp Region
1 Loss Chr1
2 Loss Chr2
6 Loss Chr6
10 Loss Chr10
13 Loss Chr13
17 Loss Chr17
21 Loss Chr21

Rearrangements

TERT (upstream) (5p15) (12%)

Mutations (SNV/INDEL)

From Cosmic Mutated in >20%

Mutated in 10-20%

TP53

Mutated in 5-10%

VHL, PTEN

Mutated in 2-5%

KMT2D, KMT2C, TERT, MET, ARID1A, FAAH2, PDHB, PDXDC1, ZNF765

mtDNA

Epigenomics (methylation)

Main Pathways Involved

Diagnosis

Prognosis

Therapeutics

Familial Forms

Links

References