Difference between revisions of "Renal Oncocytoma"
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== Mutations (SNV/INDEL) == | == Mutations (SNV/INDEL) == | ||
| − | === From Cosmic Mutated in >20% === | + | === From Cosmic Mutated in >20%<ref name=cosmic>COSMIC (http://cancer.sanger.ac.uk/cosmic)</ref> === |
| + | |||
=== Mutated in 10-20% === | === Mutated in 10-20% === | ||
=== Mutated in 5-10% === | === Mutated in 5-10% === | ||
Revision as of 11:00, 18 August 2016
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. COSMIC (http://cancer.sanger.ac.uk/cosmic)
2. Diaz JI, Mora LB, Hakam A. The Mainz Classification of Renal Cell Tumors. Cancer Control. 1999 Nov;6(6):571-579
3. 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.
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
5. 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. Diagn Pathol. 2008 Nov 6;3:44.
- ↑ 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.
- ↑ 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.
- ↑ 3.0 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.
- ↑ 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.
- ↑ COSMIC (http://cancer.sanger.ac.uk/cosmic)