Difference between revisions of "Renal Oncocytoma"
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| + | [[Category:Diseases]] | ||
| + | [[Category:Recently Added Pages]] | ||
| + | [[Category:Kidney]] | ||
| + | |||
__TOC__ | __TOC__ | ||
== Contributors == | == Contributors == | ||
| + | Han, Peng Cheng, MD | ||
| + | <br> | ||
| + | Daynna Wolff, PhD FACMG | ||
| + | <br> | ||
| + | Yajuan Liu, PhD | ||
| + | <br> | ||
| + | Rajyasree Emmadi, MD | ||
| + | <br> | ||
| + | Banumathy Gowrishankar, PhD | ||
| + | <br> | ||
| + | Jane Houldsworth, PhD | ||
| + | |||
| + | == Cancer Category/Type == | ||
| + | |||
| + | Kidney tumor<ref name=diaz></ref> | ||
| + | |||
| + | == 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. <ref name=diaz>Diaz JI, Mora LB, Hakam A. The Mainz Classification of Renal Cell Tumors. Cancer Control. 1999 Nov;6(6):571-579.</ref><ref name=durinck>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.</ref><ref name=joshi>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.</ref> | ||
| − | + | == Synonyms/Terminology == | |
| − | |||
| − | + | ==Epidemiology/Prevalence == | |
| + | 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. | ||
| − | + | == Immunophenotype == | |
| + | |||
| + | 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<ref name=hagenkord>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.</ref> == | ||
| + | |||
| + | |||
| + | {| class="wikitable sortable" | ||
| + | |- | ||
| + | ! Chromosome !! Gain/Loss/Amp !! Region | ||
| + | |- | ||
| + | |1 || Loss || Chr1 | ||
| + | |- | ||
| + | |14 || Loss || Chr14 | ||
| + | |- | ||
| + | |21 || Loss || Chr21 | ||
| + | |- | ||
| + | |X || Loss || ChrX | ||
| + | |- | ||
| + | |Y || Loss || ChrY (male) | ||
| + | |} | ||
== Rearrangements == | == Rearrangements == | ||
| − | + | [[CCND1]] (11q13.3)<ref name=joshi></ref> | |
== Mutations (SNV/INDEL) == | == Mutations (SNV/INDEL) == | ||
| − | + | === 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% === | ||
| + | |||
| + | [[CREBBP]] (6%), [[PTEN]] (6%), [[MET]] (6%) | ||
| + | |||
=== Mutated in 2-5% === | === 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.<ref name=joshi></ref> | ||
== Diagnosis == | == Diagnosis == | ||
| − | + | Diploid with CCND1 rearrangement (Type I); Loss of 1, 14, 21, X or Y (Type II)<ref name=joshi></ref> | |
== Prognosis == | == Prognosis == | ||
| − | + | Type II is more aggressive and may progress to malignant eosinophillic chrRCC.<ref name=diaz></ref><ref name=joshi></ref> | |
| − | == | + | == Familial Forms == |
| − | |||
| − | + | Birt-Hogg-Dube syndrome (BHD): FLCN (17p11.2) | |
| − | + | == Links == | |
==References== | ==References== | ||
| − | |||
Latest revision as of 12:56, 1 May 2017
Contributors
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]
Synonyms/Terminology
Epidemiology/Prevalence
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.
Immunophenotype
Positive (universal): CD10, E-cadherin, EMA, PAX2, PAX8, AMACR.
Positive (subset): [CD117].
Negative (universal): 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
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.[1][3]
Familial Forms
Birt-Hogg-Dube syndrome (BHD): FLCN (17p11.2)
Links
References
- ↑ 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.
- ↑ 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 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.
- ↑ 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)