MCID: EXT019
MIFTS: 48

Extraskeletal Myxoid Chondrosarcoma malady

Cancer diseases category

Summaries for Extraskeletal Myxoid Chondrosarcoma

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46OMIM, 32MalaCards
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MalaCards: Extraskeletal Myxoid Chondrosarcoma, also known as chondrosarcoma, extraskeletal myxoid, is related to chondrosarcoma and sarcoma. An important gene associated with Extraskeletal Myxoid Chondrosarcoma is NR4A3 (nuclear receptor subfamily 4, group A, member 3), and among its related pathways is Transcriptional misregulation in cancer. The compounds nor 1 and askin have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and heart, and related mouse phenotypes are hematopoietic system and nervous system.

Description from OMIM:46 612237

Aliases & Classifications for Extraskeletal Myxoid Chondrosarcoma

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8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases


Characteristics (Orphanet epidemiological data):

48
extraskeletal myxoid chondrosarcoma:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

extraskeletal myxoid chondrosarcoma 8 10 48 60
chondrosarcoma, extraskeletal myxoid 9 46
myxoid extraosseous chondrosarcoma 8


External Ids:

Disease Ontology8 DOID:6496
OMIM46 612237
NCIt39 C27502
SNOMED-CT56 404079008
SNOMED-CT via Orphanet57 404079008
UMLS via Orphanet61 C1275278

Related Diseases for Extraskeletal Myxoid Chondrosarcoma

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17GeneCards, 18GeneDecks
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Diseases related to Extraskeletal Myxoid Chondrosarcoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1chondrosarcoma32.0S100B, S100A1, EWSR1, NR4A3, MUC1, TAF15
2sarcoma31.1S100B, S100A1, EWSR1, NR4A3, MUC1, TAF15
3chordoma30.7MUC1, S100A1, S100B
4synovial sarcoma30.4EWSR1
5myxoid chondrosarcoma11.4
6intracranial chondrosarcoma10.6
7adult extraosseous chondrosarcoma10.3
8epithelial-myoepithelial carcinoma10.3
9localized chondrosarcoma10.3
10extraskeletal mesenchymal chondrosarcoma10.3
11chondroid chordoma10.3
12extraosseous chondrosarcoma10.3
13mesenchymal chondrosarcoma10.3
14parachordoma10.3
15polyneuropathy10.3
16glomus tumor10.0S100A1
17angiomyolipoma10.0S100A1
18papilloma10.0NR1H2
19thymus cancer10.0MUC1
20central nervous system cancer10.0ENO2
21epulis10.0ENO2
22nephrogenic adenoma10.0S100A1
23amyotrophic lateral sclerosis10.0TAF15, FUS
24cerebral primitive neuroectodermal tumor10.0ENO2, EWSR1
25retroperitoneal leiomyosarcoma10.0SMARCB1
26langerhans-cell histiocytosis10.0S100B, S100A1
27rosai-dorfman disease10.0S100B
28desmoplastic small round cell tumor10.0EWSR1, MUC1
29myxoid liposarcoma10.0FUS, EWSR1
30ganglioglioma10.0ENO2, S100B
31cutaneous fibrous histiocytoma10.0S100A1, S100B
32down syndrome10.0S100A1, S100B
33olfactory neuroblastoma10.0S100B, ENO2
34pleomorphic adenoma10.0PLAGL1
35myoepithelioma10.0S100B, S100A1, EWSR1
36fibrous meningioma10.0MUC1, S100B
37choroid plexus papilloma10.0S100B, MUC1
38anaplastic ependymoma10.0S100B, MUC1
39clear cell sarcoma10.0S100B, EWSR1, FUS
40prostate cancer10.0ENO2, NR1H2
41neuroepithelioma10.0EWSR1, ENO2
42spindle cell sarcoma10.0MUC1, S100B
43pineocytoma10.0S100B, ENO2
44rhabdoid tumor10.0SMARCB1, MUC1
45fibrous histiocytoma10.0S100B, FUS
46subependymal giant cell astrocytoma10.0ENO2
47dermatofibrosarcoma protuberans10.0S100B, S100A1, MUC1
48granular cell tumor10.0ENO2, S100A1, S100B
49lipoma10.0FUS, S100A1, C11orf95
50syringoma10.0S100B, S100A1, MUC1

Graphical network of the top 20 diseases related to Extraskeletal Myxoid Chondrosarcoma:



Diseases related to extraskeletal myxoid chondrosarcoma

Clinical Features for Extraskeletal Myxoid Chondrosarcoma

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46OMIM
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Clinical features from OMIM:

612237

Drugs & Therapeutics for Extraskeletal Myxoid Chondrosarcoma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Extraskeletal Myxoid Chondrosarcoma

Drug clinical trials:

Search ClinicalTrials for Extraskeletal Myxoid Chondrosarcoma

Search NIH Clinical Center for Extraskeletal Myxoid Chondrosarcoma

Search CenterWatch for Extraskeletal Myxoid Chondrosarcoma

Genetic Tests for Extraskeletal Myxoid Chondrosarcoma

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Anatomical Context for Extraskeletal Myxoid Chondrosarcoma

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32MalaCards
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MalaCards organs/tissues related to Extraskeletal Myxoid Chondrosarcoma:

32
Lung, Bone, Heart, Bone marrow, Liver, Pancreas, Breast

Animal Models for Extraskeletal Myxoid Chondrosarcoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Extraskeletal Myxoid Chondrosarcoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.8NR4A3, NR1H2, CHI3L1, TCF12, TSN, FUS
2MP:00036318.3PRPH, NR4A3, NR1H2, SIX3, PLAGL1, TCF12
3MP:00053848.2SMARCB1, EWSR1, NR4A3, NR1H2, CHI3L1, PLAGL1

Publications for Extraskeletal Myxoid Chondrosarcoma

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50PubMed
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Articles related to Extraskeletal Myxoid Chondrosarcoma:

(show top 50)    (show all 152)
idTitleAuthorsYear
1
Osseous myxochondroid sarcoma: a detailed study of 5 cases of extraskeletal myxoid chondrosarcoma of the bone. (23588370)
2013
2
Extraskeletal Myxoid Chondrosarcoma of the Vulva With PLAG1 Gene Activation: Molecular Genetic Characterization of 2 Cases. (24185117)
2013
3
A novel sarcoma with dual differentiation: clinicopathologic and molecular characterization of a combined synovial sarcoma and extraskeletal myxoid chondrosarcoma. (22743288)
2012
4
Identification of genes regulated by the EWS/NR4A3 fusion protein in extraskeletal myxoid chondrosarcoma. (22592656)
2012
5
Chromosomal translocation-negative cellular extraskeletal myxoid chondrosarcoma in an adolescent female. (22804337)
2012
6
Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion, resembling extraskeletal myxoid chondrosarcoma: Case report with a review of Literature. (23252871)
2012
7
Extraskeletal myxoid chondrosarcoma of the thigh with a t(9;17) translocation. (22740963)
2012
8
Extraskeletal myxoid chondrosarcoma with small bowel metastasis causing bowel obstruction. (23213584)
2012
9
The TFG-TEC fusion gene created by the t(3;9) translocation in human extraskeletal myxoid chondrosarcomas encodes a more potent transcriptional activator than TEC. (22581839)
2012
10
A case of highly aggressive extraskeletal myxoid chondrosarcoma. (21941486)
2011
11
Extraskeletal myxoid chondrosarcoma: a case report of complete remission by chemotherapy and review of the literature. (22315646)
2010
12
Fine-needle aspiration cytology of extraskeletal myxoid chondrosarcoma: a case report. (19894252)
2010
13
The EWSR1/NR4A3 fusion protein of extraskeletal myxoid chondrosarcoma activates the PPARG nuclear receptor gene. (18855877)
2009
14
Extraskeletal myxoid chondrosarcoma: a study using a quick-freezing and deep-etching method. (19784746)
2009
15
Testicular metastasis of extraskeletal myxoid chondrosarcoma: report of first case. (18308379)
2008
16
Spectrum of cytomorphological features, including literature review, of an extraskeletal myxoid chondrosarcoma with t(9;22)(q22;q12) (TEC/EWS) results in one case. (18925568)
2008
17
Skeletal recurrences and metastases of extraskeletal myxoid chondrosarcoma. (17437101)
2007
18
Retroperitoneal extraskeletal myxoid chondrosarcoma]. (17175793)
2006
19
MRI features of extraskeletal myxoid chondrosarcoma. (16220270)
2006
20
The gene expression profile of extraskeletal myxoid chondrosarcoma. (15920699)
2005
21
Prognosis of extraskeletal myxoid chondrosarcoma. (12820050)
2003
22
Extraskeletal myxoid chondrosarcoma: a Multi-Institutional Study of 42 Cases in Japan. (12599237)
2003
23
Pathologic quiz case: chest wall mass in a 74-year-old man. Extraskeletal myxoid chondrosarcoma. (14521439)
2003
24
Extraskeletal myxoid chondrosarcoma of the infratemporal fossa: a case report. (12767886)
2003
25
Extraskeletal myxoid chondrosarcoma arising in the finger. (11981607)
2002
26
Extraskeletal myxoid chondrosarcoma: a light microscopic, immunohistochemical, ultrastructural and immuno-ultrastructural study indicating neuroendocrine differentiation. (11737310)
2001
27
Metastases to the liver from extraskeletal myxoid chondrosarcoma and successful treatment with percutaneous ethanol injection. (10767194)
2000
28
Extraskeletal myxoid chondrosarcoma with multiple skeletal metastases. (10982652)
2000
29
Extraskeletal myxoid chondrosarcoma with neuroendocrine differentiation: a pathologic, cytogenetic, and molecular study of a case with a novel translocation t(9;17)(q22;q11.2). (10895826)
2000
30
Identification of a novel fusion gene involving hTAFII68 and CHN from a t(9;17)(q22;q11.2) translocation in an extraskeletal myxoid chondrosarcoma. (10602520)
1999
31
Skeletal and extraskeletal myxoid chondrosarcoma: related or distinct tumors? (10410173)
1999
32
High-grade extraskeletal myxoid chondrosarcoma: a high-grade epithelioid malignancy. (10469211)
1999
33
Der(16)t(1;16)(q21;q13) as a secondary structural aberration in yet a third sarcoma, extraskeletal myxoid chondrosarcoma. (9408761)
1997
34
Extraskeletal and Skeletal Myxoid Chondrosarcoma: A Multiparameter Analysis of Three Cases Including Cytogenetic Analysis and Fluorescence In Situ Hybridization. (10330205)
1996
35
Extraskeletal myxoid chondrosarcoma. Long-term experience with chemotherapy. (7900708)
1995
36
Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma. (7635565)
1995
37
FNA of extraskeletal myxoid chondrosarcoma: cytomorphologic, EM, and X-ray microanalysis features. (7924809)
1994
38
Extraskeletal myxoid chondrosarcoma: an unusual tumour in a 6-year-old boy. (8118720)
1994
39
Intracranial extraskeletal myxoid chondrosarcoma with special reference to lamellar inclusions in the rough endoplasmic reticulum. (8310804)
1993
40
Unusual extraskeletal myxoid chondrosarcoma. (1373011)
1992
41
Extraskeletal myxoid chondrosarcoma of the falx. (1513440)
1992
42
Embryonal form of extraskeletal myxoid chondrosarcoma with intermediate filament positive hyaline-like globules. (1384692)
1992
43
Cellular variant of extraskeletal myxoid chondrosarcoma of abdominal wall--a case report with comparative immunohistochemical study on cartilaginous collagenous proteins in various myxoid mesenchymal tumors. (1531226)
1992
44
Extraskeletal myxoid chondrosarcoma of the epiglottis: case report and review of the literature. (1901157)
1991
45
Chromosomal abnormality t(9;22)(q22;q12) in an extraskeletal myxoid chondrosarcoma characterized by fine needle aspiration cytology, electron microscopy, immunohistochemistry and DNA flow cytometry. (1782363)
1991
46
Extraskeletal myxoid chondrosarcoma of the maxillary sinus. (1919329)
1991
47
Extraskeletal myxoid chondrosarcoma with intranuclear vacuoles and microtubular aggregates in the rough endoplasmic reticulum. Report of a case with fine needle aspiration and electron microscopy. (2256420)
1990
48
Extraskeletal myxoid chondrosarcoma of the head and neck: a case report. (2508028)
1989
49
Extraskeletal myxoid chondrosarcoma: a histochemical and immunohistochemical study. (3522393)
1986
50
Extraskeletal myxoid chondrosarcoma: a clinicopathological study. (1253108)
1976

Genetic Variations for Extraskeletal Myxoid Chondrosarcoma

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Expression for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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Pathways for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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29KEGG
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Pathways related to Extraskeletal Myxoid Chondrosarcoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8FUS, TAF15, NR4A3, EWSR1

Compounds for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Extraskeletal Myxoid Chondrosarcoma according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1nor 14410.4EWSR1, NR4A3
2askin4410.3ENO2, EWSR1
3eosin4410.2MUC1, S100B
4edss4410.1S100B, ENO2
5mucicarmine4410.1S100B, S100A1, MUC1
6b 7234410.1MUC1, S100A1, S100B
7smcc4410.1NR1H2, ENO2
8reticulin4410.1MUC1, S100B
9s 1004410.0ENO2, MUC1, S100B
10olopatadine44 1111.0S100A1, S100B
11formaldehyde44 2410.8S100B, NR1H2, MUC1, ENO2
12hematoxylin449.8ENO2, MUC1, S100A1, S100B
13toluidine449.5ENO2, S100A1
14paraffin449.5S100B, S100A1, EWSR1, MUC1, ENO2
15zinc44 2410.4S100B, S100A1, EWSR1, NR1H2, PLAGL1, FUS
16progesterone44 59 28 11 2413.3S100B, S100A1, NR1H2, MUC1, ENO2
17testosterone44 59 11 2412.2S100B, NR1H2, MUC1, PLAGL1, ENO2
18retinoic acid44 2410.2S100B, S100A1, EWSR1, NR1H2, MUC1, ENO2

GO Terms for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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16Gene Ontology
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Cellular components related to Extraskeletal Myxoid Chondrosarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056348.0SMARCB1, S100A1, EWSR1, NR4A3, NR1H2, TAF15

Molecular functions related to Extraskeletal Myxoid Chondrosarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1S100 protein bindingGO:0445489.7S100B, S100A1
2identical protein bindingGO:0428029.4FUS, TFG, EWSR1, S100A1, S100B
3protein bindingGO:0055157.9S100A1, EWSR1, NPM3, TFG, NR1H2, MUC1

Products for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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Sources for Extraskeletal Myxoid Chondrosarcoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet