Chromophobe renal cell carcinoma


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 Chr14
3 Loss Chr21
4 Loss ChrX
5 Loss ChrY (male)

Rearrangements

Mutations (SNV/INDEL)

From Cosmic Mutated in >20%

Mutated in 10-20%

Mutated in 5-10%

Mutated in 2-5%

mtDNA

Epigenomics (methylation)

Main Pathways Involved

Diagnosis

Prognosis

Therapeutics

Familial Forms

Links

References