Renal Oncocytoma


Contributors

Daynna Wolff, PhD FACMG
Yajuan Liu, PhD
Rajyasree Emmadi, MD
Banumathy Gowrishankar, PhD
Jane Houldsworth, PhD

Tumor Type

Renal Cell Carcinoma[1]

Tumor Classification

Renal Oncocytoma

Description

Oncocytoma is a benign renal epithelial neoplasm and accounts for 5% of the tumors derived from tubular epithelium. [1][2][3]

IHC Markers

Positive: CD10, E-cadherin, EMA, PAX2, PAX8, CD117, AMACR.

Negative: vimentin, CD10, RCC, CK7.

Genomic Gain/Loss/LOH[4]

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)

From Cosmic Mutated in >20%[5]

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.[3]

Diagnosis

Diploid with CCND1 rearrangement (Type I); Loss of 1, 14, 21, X or Y (Type II)[3]

Prognosis

Type II is more aggressive and may progress to malignant eosinophillic chrRCC.

Familial Forms

Birt-Hogg-Dube syndrome (BHD): FLCN (17p11.2)

Links

References

  1. 1.0 1.1 Diaz JI, Mora LB, Hakam A. The Mainz Classification of Renal Cell Tumors. Cancer Control. 1999 Nov;6(6):571-579.
  2. Durinck S, Stawiski EW, Pavía-Jiménez A, Modrusan Z, Kapur P, Jaiswal BS, Zhang N, Toffessi-Tcheuyap V, Nguyen TT, Pahuja KB, Chen YJ, Saleem S, Chaudhuri S, Heldens S, Jackson M, Peña-Llopis S, Guillory J, Toy K, Ha C, Harris CJ, Holloman E, Hill HM, Stinson J, Rivers CS, Janakiraman V, Wang W, Kinch LN, Grishin NV, Haverty PM, Chow B, Gehring JS, Reeder J, Pau G, Wu TD, Margulis V, Lotan Y, Sagalowsky A, Pedrosa I, de Sauvage FJ, Brugarolas J, Seshagiri S. Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes. Nat Genet. 2015 Jan;47(1):13-21.
  3. 3.0 3.1 3.2 Joshi S, Tolkunov D, Aviv H, Hakimi AA, Yao M, Hsieh JJ, Ganesan S, Chan CS, White E. The Genomic Landscape of Renal Oncocytoma Identifies a Metabolic Barrier to Tumorigenesis. Cell Rep. 2015 Dec 1;13(9):1895-908.
  4. Hagenkord JM, Parwani AV, Lyons-Weiler MA, Alvarez K, Amato R, Gatalica Z, Gonzalez-Berjon JM, Peterson L, Dhir R, Monzon FA. Virtual karyotyping with SNP microarrays reduces uncertainty in the diagnosis of renal epithelial tumors.
  5. COSMIC (http://cancer.sanger.ac.uk/cosmic)