Renal Oncocytoma

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
14	Loss	Chr14
21	Loss	Chr21
X	Loss	ChrX
Y	Loss	ChrY (male)

Rearrangements

CCND1 (11q13.3)

Mutations (SNV/INDEL)

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)