Difference between revisions of "Chromophobe renal cell carcinoma"
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== Familial Forms == | == Familial Forms == | ||
| + | Birt-Hogg-Dube syndrome (BHD): FLCN (17p11.2) | ||
== Links == | == Links == | ||
==References== | ==References== | ||
Revision as of 08:57, 29 July 2016
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
Birt-Hogg-Dube syndrome (BHD): FLCN (17p11.2)