Difference between revisions of "Renal Oncocytoma"
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== Familial Forms == | == Familial Forms == | ||
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| + | Birt-Hogg-Dube syndrome (BHD): FLCN (17p11.2) | ||
== Links == | == Links == | ||
==References== | ==References== | ||
Revision as of 09:50, 28 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
Renal Oncocytoma
Description
Oncocytoma is a benign renal epithelial neoplasm and account for 5% of the tumors derived from tubular epithelium (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, E-cadherin, EMA, PAX2, PAX8, CD117, AMACR.
Negative: vimentin, CA1X, RCC, CK7.
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
CCND1 (11q13.3)
Mutations (SNV/INDEL)
From Cosmic Mutated in >20%
Mutated in 10-20%
Mutated in 5-10%
CREBBP (6%), PTEN (6%), MET (6%)
Mutated in 2-5%
VHL (2%), TP53 (2%), ATM (3%), APC (3%), SRSF2 (3%). MLH1 (3%), GRIN2A (3%), NSD1 (3%), TCF3 (3%), BCAR3 (3%), ARID1A (3%), MAF (3%), TCF12 (3%), RANBP2 (3%), BCOR (3%),MECOM (3%), PCM1 (3%)
mtDNA
COX1, COX2, COX3, ND4, ND5, CYTB
Epigenomics (methylation)
Unknown
Main Pathways Involved
Mitochrondrial electron transport chain, autophagy and golgi trafficking.
Diagnosis
Diploid with CCND1 rearrangement (Type I); Loss of 1, 14, 21, X or Y (Type II)
Prognosis
Type II is more aggressive and may progress to malignant eosinophillic chrRCC.
Therapeutics
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Familial Forms
Birt-Hogg-Dube syndrome (BHD): FLCN (17p11.2)