Renal Oncocytoma

From Compendium of Cancer Genome Aberrations
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Han, Peng Cheng, MD
Daynna Wolff, PhD FACMG
Yajuan Liu, PhD
Rajyasree Emmadi, MD
Banumathy Gowrishankar, PhD
Jane Houldsworth, PhD

Cancer Category/Type

Kidney tumor[1]

Cancer Sub-Classification/Subtype

Renal Oncocytoma

Description/Description of Disease

Renal oncocytoma (RO) is a benign but relatively rare renal epithelial tumor. Renal oncocytoma is postulated to originate from intercalated cells of collecting ducts, sharing the common origin with chromophobe renal cell carcinoma, a malignant form of kidney cancer Oncocytomas are the most frequent renal tumors in patients with Birt-Hogg-Dube syndrome (BHD). BHD is caused by mutations in the folliculin gene (FLCN). The etiology of sporadic RO is not known.

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



Renal oncocytomas comprise approximately 3-7% of renal epithelial neoplasms and have a slight higher prevalence in male (male: female ratio= 2~3:1)

Clinical Features

Most cases are incidental findings with imaging without presenting symptoms, and treated with partial nephrectomy. Most oncocytoma behave in a benign fashion with no recurrence, metastasis or mortality.

Sites of Involvement

Renal cortex or cortico-medullary junction

Morphologic Features

Renal oncocytomas are solitary, well-circumscribed tumors with generally mahogany brown or dark red cut surface and frequently a central scar. Necrosis and hemorrhage are uncommon. Histologically, the overall architecture is nests, tubulocystic, solid, or trabecular patterns within myxomatous or hyalinized stroma. The cytologic features include homogenous, round and centrally located nuclei with diffuse eosinophilic cytoplasm that consists of multiple mitochondria, as revealed by electronic microscopy.


Positive (universal): CD10, E-cadherin, EMA, PAX2, PAX8, AMACR.

Positive (subset): [CD117].

Negative (universal): vimentin, CD10, RCC, CK7.

Negative (subset): CK7,AMACR.

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)


CCND1 (11q13.3)[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%)



Epigenomics (methylation)


Main Pathways Involved

Mitochrondrial electron transport chain, autophagy and golgi trafficking.[3]


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


Type II is more aggressive and may progress to malignant eosinophillic chrRCC.[1][3]

Familial Forms

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



  1. 1.0 1.1 1.2 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 3.3 3.4 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 (