MCID: ONC007
MIFTS: 50

Oncocytoma

Categories: Cancer diseases, Nephrological diseases

Aliases & Classifications for Oncocytoma

MalaCards integrated aliases for Oncocytoma:

Name: Oncocytoma 57 12 74 54 39
Oxyphilic Adenoma 12 6 15 17 71
Follicular Adenoma, Oxyphilic Cell 12
Adenoma, Oxyphilic 44
Hurthle Cell Tumor 71
Oncocytic Neoplasm 71

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
mitochondrial


HPO:

31
oncocytoma:
Inheritance mitochondrial inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:5389
OMIM® 57 553000
MeSH 44 D018249
NCIt 50 C3759
SNOMED-CT 67 89439007
MedGen 41 C1510502
SNOMED-CT via HPO 68 108369006 363346000
UMLS 71 C0949541 C1378050 C1510502

Summaries for Oncocytoma

OMIM® : 57 Oncocytomas are usually benign tumors that occur in various organs but particularly in the kidneys. Histologic evaluation of renal oncocytomas shows that they are composed entirely of peculiar epithelial cells with granular eosinophilic cytoplasm. Ultrastructural characterization exhibits densely packed cells with mitochondria, which show morphologic differences from those in normal cells. On the average they are larger than those in renal carcinoma cells and their shape is abnormal (summary by Welter et al., 1989). (553000) (Updated 05-Mar-2021)

MalaCards based summary : Oncocytoma, also known as oxyphilic adenoma, is related to renal oncocytoma and adenoma. An important gene associated with Oncocytoma is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways/superpathways are Keratinization and Cytoskeletal Signaling. The drugs Dabrafenib and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include kidney, pituitary and salivary gland, and related phenotypes are neoplasm and abnormality of metabolism/homeostasis

Wikipedia : 74 An oncocytoma is a tumor made up of oncocytes, epithelial cells characterized by an excessive amount of... more...

Related Diseases for Oncocytoma

Diseases related to Oncocytoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 546)
# Related Disease Score Top Affiliating Genes
1 renal oncocytoma 32.2 VIM S100A1 PVALB MME KRT7 KRT14
2 adenoma 31.4 SYP MUC1 KRT7 KRT20
3 angiomyolipoma 31.0 VIM S100A1 MME KRT7 KIT
4 eosinophilic variant of chromophobe renal cell carcinoma 30.8 S100A1 CDH16
5 tuberous sclerosis 30.7 VIM SYP PVALB FLCN
6 pheochromocytoma 30.6 VIM SYP MME KRT7 KIT
7 neurilemmoma 30.5 VIM S100A1 MUC1 KIT
8 renal cell carcinoma, papillary, 1 30.5 MME KRT7 KIT FLCN CDH16 CA9
9 clear cell renal cell carcinoma 30.5 VIM MUC1 MME KRT7 FLCN CLDN7
10 horseshoe kidney 30.5 SYP KRT7 KRT20
11 papillary carcinoma 30.5 SYP S100A1 MUC1 KRT7 KRT20
12 renal adenoma 30.5 MME KRT7 CDH16 AMACR
13 pleomorphic adenoma 30.3 VIM S100A1 MUC1 KRT7 KRT14
14 cystadenoma 30.2 SYP MUC1 MME KRT7 KRT20 KIT
15 bladder leiomyoma 30.2 VIM KRT7 KIT
16 pneumothorax 30.2 VIM MUC1 FLCN
17 papilloma of choroid plexus 30.2 SYP MUC1 KRT7
18 ameloblastoma 30.2 KRT8 KRT18 KRT14
19 chromophobe renal cell carcinoma 30.2 VIM S100A1 PVALB MUC1 MME KRT8
20 spindle cell sarcoma 30.1 VIM MUC1 KRT7 KIT
21 leiomyosarcoma 30.1 VIM S100A1 MUC1 KIT
22 craniopharyngioma 30.1 KRT8 KRT7 KRT20 KRT14
23 wilms tumor 1 30.1 VIM MUC1 MME KRT7 AMACR
24 nephroma 30.1 VIM MUC1 MME KIT
25 polycystic liver disease 1 with or without kidney cysts 30.1 MUC1 KRT7 KRT20 FLCN
26 papillary tumor of the pineal region 30.1 VIM SYP S100A1 MUC1
27 leiomyoma 30.1 VIM S100A1 MME KIT
28 sarcomatoid renal cell carcinoma 30.0 S100A1 MUC1 KIT CA9
29 renal cell carcinoma, nonpapillary 30.0 VIM S100A1 PVALB MUC1 MME KRT8
30 papilloma 29.9 KRT8 KRT7 KRT20 KRT14
31 small cell cancer of the lung 29.9 SYP KRT7 KRT20 KRT18 KIT
32 hemangioblastoma 29.9 VIM SYP MUC1 MME KRT8
33 rhabdomyosarcoma 29.8 VIM SYP S100A1 MME KRT7 KIT
34 transitional cell carcinoma 29.8 KRT8 KRT7 KRT20 KRT18 CA9
35 collecting duct carcinoma 29.7 VIM PVALB MUC1 MME KRT7 KRT20
36 adenoid cystic carcinoma 29.6 VIM S100A1 MUC1 KRT7 KRT20 KRT14
37 sarcomatoid carcinoma 29.3 VIM SYP MUC1 KRT7 KRT20 KRT18
38 familial renal oncocytoma 11.2
39 birt-hogg-dube syndrome 11.0
40 thyroid hurthle cell adenoma 10.9
41 scrotum paget's disease 10.5 MUC1 KRT7
42 gallbladder signet ring cell adenocarcinoma 10.5 MUC1 KRT7
43 testicular gonadoblastoma 10.5 VIM KIT
44 cervical adenoid cystic carcinoma 10.5 KRT7 KIT
45 reticular perineurioma 10.5 MUC1 KIT
46 pancreatic foamy gland adenocarcinoma 10.5 MUC1 KRT7
47 axillary lipoma 10.5 MUC1 KIT
48 ovary neuroendocrine neoplasm 10.5 SYP KRT7
49 urethra leiomyoma 10.5 MME KIT
50 breast leiomyosarcoma 10.5 KRT7 KIT

Graphical network of the top 20 diseases related to Oncocytoma:



Diseases related to Oncocytoma

Symptoms & Phenotypes for Oncocytoma

Human phenotypes related to Oncocytoma:

31
# Description HPO Frequency HPO Source Accession
1 neoplasm 31 HP:0002664
2 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Oncology:
multifocal benign oncocytomas, esp. renal

Lab:
mitochondrial cytchrome c oxidase subunit i gene mutant

Clinical features from OMIM®:

553000 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Oncocytoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.64 MUC1
2 Decreased viability GR00055-A-2 9.64 MUC1
3 Decreased viability GR00221-A-1 9.64 KIT
4 Decreased viability GR00240-S-1 9.64 PVALB
5 Decreased viability GR00249-S 9.64 AMACR CDH16 MUC1 S100A1 VIM
6 Decreased viability GR00301-A 9.64 KIT
7 Decreased viability GR00381-A-1 9.64 CDH16 KRT18 PVALB
8 Decreased viability GR00386-A-1 9.64 CDH16 KRT20 S100A1 SYP
9 Decreased viability GR00402-S-2 9.64 KRT20 KRT8 MT-ND6 VIM

MGI Mouse Phenotypes related to Oncocytoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.44 AMACR CLDN7 CLDN8 FLCN KIT KRT14

Drugs & Therapeutics for Oncocytoma

Drugs for Oncocytoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
2
Trametinib Approved Phase 2 871700-17-3 11707110
3 Protein Kinase Inhibitors Phase 2
4 Radiopharmaceuticals
5 Technetium Tc 99m Sestamibi

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Study of PDR001 in Combination With MAPK Pathway Inhibitors in Patients With Radioiodine-Refractory Thyroid Cancer Recruiting NCT04544111 Phase 2 Trametinib;Dabrafenib;PDR001
2 Study of 99mTc-Sestamibi SPECT/CT Imaging for the Preoperative Diagnosis of Renal Oncocytoma Completed NCT02160925

Search NIH Clinical Center for Oncocytoma

Cochrane evidence based reviews: adenoma, oxyphilic

Genetic Tests for Oncocytoma

Anatomical Context for Oncocytoma

MalaCards organs/tissues related to Oncocytoma:

40
Kidney, Pituitary, Salivary Gland, Thyroid, Adrenal Gland, Prostate, Breast

Publications for Oncocytoma

Articles related to Oncocytoma:

(show top 50) (show all 2198)
# Title Authors PMID Year
1
Mitochondrial DNA mutations in oncocytic adnexal lacrimal glands of the conjunctiva. 57 6
21555623 2011
2
Familial renal oncocytoma: clinicopathological study of 5 families. 61 57
9679872 1998
3
Involvement of the chromosomal region 11q13 in renal oncocytoma: case report and literature review. 57 61
9109935 1997
4
Molecular analysis of the short arm of chromosome 3 in five renal oncocytomas. 61 57
2304183 1990
5
Alteration of mitochondrial DNA in human oncocytomas. 61 57
2487148 1989
6
Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. 57
10522666 1999
7
Expression of Galectin-3 in renal neoplasms: a diagnostic, possible prognostic marker. 61 54
20073610 2010
8
Novel intronic germline FLCN gene mutation in a patient with multiple ipsilateral renal neoplasms. 61 54
19733897 2009
9
Immunohistochemical stain for cytokeratin 7, S100A1 and claudin 8 is valuable in differential diagnosis of chromophobe renal cell carcinoma from renal oncocytoma. 54 61
19302533 2009
10
Spindle cell oncocytoma of the adenohypophysis: report of a case with marked cellular atypia and recurrence despite adjuvant treatment. 61 54
19353839 2009
11
[Hereditary renal cancer]. 54 61
19418834 2009
12
Claudin-7 and claudin-8: immunohistochemical markers for the differential diagnosis of chromophobe renal cell carcinoma and renal oncocytoma. 61 54
18799195 2009
13
Diagnostic implications of transcription factor Pax 2 protein and transmembrane enzyme complex carbonic anhydrase IX immunoreactivity in adult renal epithelial neoplasms. 61 54
18941400 2009
14
Oncocytoma can be differentiated from its renal cell carcinoma mimics by a panel of markers: an automated tissue microarray study. 61 54
18769342 2009
15
The diagnostic and prognostic utility of claudin expression in renal cell neoplasms. 54 61
18587324 2008
16
Useful markers for differential diagnosis of oncocytoma, chromophobe renal cell carcinoma and conventional renal cell carcinoma. 54 61
18603673 2008
17
Expression of claudin-7 in benign kidney and kidney tumors. 54 61
18784823 2008
18
Vimentin reactivity in renal oncocytoma: immunohistochemical study of 234 cases. 54 61
18081436 2007
19
Claudin-7 immunohistochemistry in renal tumors: a candidate marker for chromophobe renal cell carcinoma identified by gene expression profiling. 61 54
17922590 2007
20
Immunohistochemical analysis of chromophobe renal cell carcinoma, renal oncocytoma, and clear cell carcinoma: an optimal and practical panel for differential diagnosis. 61 54
17683191 2007
21
Diagnostic utility of S100A1 expression in renal cell neoplasms: an immunohistochemical and quantitative RT-PCR study. 61 54
17483815 2007
22
Differential expression of facilitative glucose transporters in normal and tumour kidney tissues. 61 54
17437443 2007
23
S100A1: a powerful marker to differentiate chromophobe renal cell carcinoma from renal oncocytoma. 54 61
17394501 2007
24
Claudin-7 is highly expressed in chromophobe renal cell carcinoma and renal oncocytoma. 54 61
17449941 2007
25
Immunohistochemical analysis for cytokeratin 7, KIT, and PAX2: value in the differential diagnosis of chromophobe cell carcinoma. 61 54
17210525 2007
26
Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinoma. 61 54
17133269 2007
27
[Expression of Ksp-cadherin in renal epithelial neoplasm and its clinicopathologic significance]. 54 61
17374232 2007
28
Diagnostic value of cytokeratin 7 and parvalbumin in differentiating chromophobe renal cell carcinoma from renal oncocytoma. 61 54
16927643 2006
29
Expression of kidney-specific cadherin in chromophobe renal cell carcinoma and renal oncocytoma. 54 61
16753598 2006
30
Expression of S-100 protein in renal cell neoplasms. 61 54
16564922 2006
31
Caveolin-1 immunohistochemical analysis in differentiating chromophobe renal cell carcinoma from renal oncocytoma. 61 54
16613342 2006
32
p63 expression in salivary gland tumors: role of DeltaNp73L in neoplastic transformation. 61 54
16273188 2005
33
Messenger RNA expression ratios among four genes predict subtypes of renal cell carcinoma and distinguish oncocytoma from carcinoma. 61 54
16166433 2005
34
Kidney-specific cadherin, a specific marker for the distal portion of the nephron and related renal neoplasms. 61 54
15696118 2005
35
Immunophenotypic comparison of salivary gland oncocytoma and metastatic renal cell carcinoma. 54 61
15933529 2005
36
Distribution of cytokeratins and vimentin in adult renal neoplasms and normal renal tissue: potential utility of a cytokeratin antibody panel in the differential diagnosis of renal tumors. 61 54
15897741 2005
37
Molecular classification of renal tumors by gene expression profiling. 54 61
15858144 2005
38
C-kit expression in renal oncocytomas and chromophobe renal cell carcinomas. 54 61
15791570 2005
39
Expression of KIT (CD117) in renal cell carcinoma and renal oncocytoma. 61 54
16015044 2005
40
Expression of kidney-specific cadherin distinguishes chromophobe renal cell carcinoma from renal oncocytoma. 54 61
15712178 2005
41
Birt-Hogg-Dubé syndrome, a genodermatosis that increases risk for renal carcinoma. 61 54
15579035 2004
42
The diagnostic utility of MOC31, BerEP4, RCC marker and CD10 in the classification of renal cell carcinoma and renal oncocytoma: an immunohistochemical analysis of 328 cases. 61 54
15500648 2004
43
Molecular profiling and classification of sporadic renal cell carcinoma by quantitative methylation analysis. 61 54
15534102 2004
44
Overexpression of KIT (CD117) in chromophobe renal cell carcinoma and renal oncocytoma. 54 61
15198361 2004
45
KIT expression in chromophobe renal cell carcinoma: comparative immunohistochemical analysis of KIT expression in different renal cell neoplasms. 61 54
15105658 2004
46
Lack of mutation of the folliculin gene in sporadic chromophobe renal cell carcinoma and renal oncocytoma. 54 61
14961590 2004
47
[Value of special stains and immunohistochemistry in the diagnosis of renal epithelial neoplasms]. 61 54
15132851 2004
48
Immunohistochemical identification of intracytoplasmic lumens by cytokeratin typing may differentiate renal oncocytomas from chromophobe renal cell carcinomas. 54 61
14702167 2004
49
Rapid and sensitive detection of messenger RNA expression for molecular differential diagnosis of renal cell carcinoma. 54 61
14695146 2003
50
PGC-1-related coactivator and targets are upregulated in thyroid oncocytoma. 54 61
14550271 2003

Variations for Oncocytoma

ClinVar genetic disease variations for Oncocytoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-ND6 NC_012920.1:m.14248dupC Duplication Pathogenic 224776 rs869312882 MT:14243-14244 MT:14243-14244

Cosmic variations for Oncocytoma:

9 (show all 27)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88293959 VHL kidney,NS,carcinoma,oncocytic c.563T>G p.L188R 3:10149886-10149886 0
2 COSM90654701 VHL kidney,NS,carcinoma,oncocytic c.440T>G p.L147R 3:10149886-10149886 0
3 COSM141197210 VAV1 kidney,NS,carcinoma,granular c.1711G>A p.E571K 19:6836530-6836530 0
4 COSM140075459 VAV1 kidney,NS,carcinoma,granular c.1780G>A p.E594K 19:6836530-6836530 0
5 COSM130167280 VAV1 kidney,NS,carcinoma,granular c.1708G>A p.E570K 19:6836530-6836530 0
6 COSM85977099 VAV1 kidney,NS,carcinoma,granular c.1876G>A p.E626K 19:6836530-6836530 0
7 COSM142344940 VAV1 kidney,NS,carcinoma,granular c.1876G>A p.E626K 19:6836530-6836530 0
8 COSM98482493 UBR4 kidney,NS,carcinoma,oncocytic c.4564G>A p.A1522T 1:19164389-19164389 0
9 COSM91166476 SMC6 kidney,NS,carcinoma,oncocytic c.2911-1G>C p.? 2:17670576-17670576 0
10 COSM104961841 SMC6 kidney,NS,carcinoma,oncocytic c.2911-1G>C p.? 2:17670576-17670576 0
11 COSM113655614 SMC6 kidney,NS,carcinoma,oncocytic c.2911-1G>C p.? 2:17670576-17670576 0
12 COSM89619177 SF3B1 kidney,NS,carcinoma,oncocytic c.3122G>A p.R1041H 2:197398473-197398473 0
13 COSM85451892 MDH1 kidney,NS,carcinoma,oncocytic c.894G>C p.K298N 2:63606876-63606876 0
14 COSM130888282 MDH1 kidney,NS,carcinoma,oncocytic c.627G>C p.K209N 2:63606876-63606876 0
15 COSM103897123 MDH1 kidney,NS,carcinoma,oncocytic c.399G>C p.K133N 2:63606876-63606876 0
16 COSM131941816 MDH1 kidney,NS,carcinoma,oncocytic c.948G>C p.K316N 2:63606876-63606876 0
17 COSM105256801 MDH1 kidney,NS,carcinoma,oncocytic c.522G>C p.K174N 2:63606876-63606876 0
18 COSM105768114 FOXA2 kidney,NS,carcinoma,oncocytic c.90C>T p.G30= 20:22583152-22583152 0
19 COSM99689851 FOXA2 kidney,NS,carcinoma,oncocytic c.72C>T p.G24= 20:22583152-22583152 0
20 COSM149302772 ALDH7A1 kidney,NS,carcinoma,oncocytic c.1615A>G p.I539V 5:126545015-126545015 0
21 COSM132988022 ALDH7A1 kidney,NS,carcinoma,oncocytic c.1378A>G p.I460V 5:126545015-126545015 0
22 COSM148326115 ALDH7A1 kidney,NS,carcinoma,oncocytic c.1450A>G p.I484V 5:126545015-126545015 0
23 COSM146395536 ALDH7A1 kidney,NS,carcinoma,oncocytic c.1561A>G p.I521V 5:126545015-126545015 0
24 COSM149325981 ALDH7A1 kidney,NS,carcinoma,oncocytic c.1369A>G p.I457V 5:126545015-126545015 0
25 COSM145989298 ALDH7A1 kidney,NS,carcinoma,oncocytic c.1390A>G p.I464V 5:126545015-126545015 0
26 COSM103034120 ALDH7A1 kidney,NS,carcinoma,oncocytic c.1570A>G p.I524V 5:126545015-126545015 0
27 COSM149151841 ALDH7A1 kidney,NS,carcinoma,oncocytic c.1565+1309A>G p.? 5:126545015-126545015 0

Expression for Oncocytoma

Search GEO for disease gene expression data for Oncocytoma.

Pathways for Oncocytoma

Pathways related to Oncocytoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.01 KRT8 KRT7 KRT20 KRT18 KRT14
2 11.92 VIM MUC1 KRT8 KRT7 KRT20 KRT18
3 11.48 KRT20 KRT18 KRT14
4 11.3 VIM MME KRT8
5
Show member pathways
11.05 VIM KRT8 KRT7 KRT18 KRT14

GO Terms for Oncocytoma

Cellular components related to Oncocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 9.62 CLDN8 CLDN7 CDH16 CA9
2 keratin filament GO:0045095 9.46 KRT8 KRT7 KRT18 KRT14
3 cell periphery GO:0071944 9.43 KRT8 KRT18 KRT14
4 apicolateral plasma membrane GO:0016327 9.13 KRT8 CLDN8 CLDN7
5 intermediate filament GO:0005882 9.1 VIM KRT8 KRT7 KRT20 KRT18 KRT14

Biological processes related to Oncocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.65 VIM SLC25A5 KRT8 KRT7 KRT18
2 keratinization GO:0031424 9.35 KRT8 KRT7 KRT20 KRT18 KRT14
3 hepatocyte apoptotic process GO:0097284 9.16 KRT8 KRT18
4 cornification GO:0070268 9.02 KRT8 KRT7 KRT20 KRT18 KRT14

Molecular functions related to Oncocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.43 VIM KRT20 KRT14
2 scaffold protein binding GO:0097110 9.33 VIM KRT8 KRT18
3 structural molecule activity GO:0005198 9.02 KRT20 KRT18 KRT14 CLDN8 CLDN7
4 keratin filament binding GO:1990254 8.96 VIM KRT14

Sources for Oncocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....