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
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

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Prognosis

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Therapeutics

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Familial Forms

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Links

References