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)

Links

References