MCID: EXT019
MIFTS: 47

Extraskeletal Myxoid Chondrosarcoma malady

Cancer diseases, Rare diseases categories
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Summaries for Extraskeletal Myxoid Chondrosarcoma

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Disease Ontology:8 An extraosseous chondrosarcoma that has material basis in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix.

MalaCards based summary: Extraskeletal Myxoid Chondrosarcoma, also known as chondrosarcoma, extraskeletal myxoid, is related to chondrosarcoma and chordoma, and has symptoms including An important gene associated with Extraskeletal Myxoid Chondrosarcoma is TAF15 (TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa), and among its related pathways is Transcriptional misregulation in cancer. The compounds nor 1 and eosin have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and heart, and related mouse phenotypes are tumorigenesis and integument.

Description from OMIM:46 612237

Aliases & Classifications for Extraskeletal Myxoid Chondrosarcoma

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8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 63UMLS via Orphanet
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Extraskeletal Myxoid Chondrosarcoma, Aliases & Descriptions:

Name: Extraskeletal Myxoid Chondrosarcoma 8 10 48 62
Chondrosarcoma, Extraskeletal Myxoid 9 46
 
Myxoid Extraosseous Chondrosarcoma 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Rare diseases
Orphanet: 48 
Rare tumors


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:6496
OMIM46 612237
SNOMED-CT57 404079008
NCIt39 C27502
UMLS via Orphanet63 C1275278

Related Diseases for Extraskeletal Myxoid Chondrosarcoma

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1chondrosarcoma31.7TAF15, S100B, SIX3, NR4A3, MUC1, EWSR1
2chordoma30.9S100B, MUC1
3synovial sarcoma30.5S100B, MUC1
4sarcoma30.4EWSR1, SMARCB1, MUC1, NR4A3, S100B, TAF15
5myxoid chondrosarcoma11.5
6cerebral primitive neuroectodermal tumor10.5EWSR1
7amyotrophic lateral sclerosis type 1410.5TAF15
8fibrous histiocytoma10.5EWSR1
9pleomorphic adenoma10.4PLAGL1
10adult extraosseous chondrosarcoma10.4
11epithelial-myoepithelial carcinoma10.4
12extraosseous chondrosarcoma10.4
13parachordoma10.4
14polyneuropathy10.4
15soft tissue sarcoma10.4
16desmoplastic small round cell tumor10.3MUC1, EWSR1
17clear cell sarcoma10.2EWSR1, S100B
18myoepithelioma10.2S100B, EWSR1
19fibrous meningioma10.1S100B, MUC1
20choroid plexus papilloma10.1MUC1, S100B
21anaplastic ependymoma10.1MUC1, S100B
22spindle cell sarcoma10.1S100B, MUC1
23syringoma10.1MUC1, S100B
24dermatofibrosarcoma protuberans10.1S100B, MUC1
25peripheral primitive neuroectodermal tumor10.1EWSR1, S100B, TAF15
26perineurioma10.1S100B, MUC1
27hemangiopericytoma10.1MUC1, S100B
28sex cord-gonadal stromal tumor10.1MUC1, S100B
29malignant mixed mullerian tumor10.1MUC1, S100B
30hemangioblastoma10.1MUC1, S100B
31giant cell tumor10.1S100B, MUC1
32acute leukemia10.1EWSR1, SMARCB1
33malignant peripheral nerve sheath tumor10.1S100B, MUC1
34malignant fibroxanthoma10.1S100B, MUC1
35epithelioid sarcoma10.0SMARCB1, MUC1
36neurofibroma10.0S100B, MUC1
37rhabdoid tumor10.0MUC1, SMARCB1
38anaplastic large cell lymphoma10.0TFG, MUC1
39salivary gland adenoid cystic carcinoma10.0S100B, MUC1
40ependymoma10.0MUC1, S100B
41neuroendocrine carcinoma10.0S100B, MUC1
42microphthalmia9.9S100B, SIX3
43rhabdomyosarcoma9.9S100B, SMARCB1, EWSR1
44leiomyosarcoma9.8SMARCB1, MUC1, S100B
45neurilemmoma9.8S100B, MUC1, SMARCB1
46meningioma9.8SMARCB1, MUC1, S100B
47glioblastoma9.7S100B, CHI3L1, SMARCB1

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



Diseases related to extraskeletal myxoid chondrosarcoma

Symptoms for Extraskeletal Myxoid Chondrosarcoma

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Clinical features from OMIM:

612237

HPO human phenotypes related to Extraskeletal Myxoid Chondrosarcoma:

id Description Frequency HPO Source Accession
1 somatic mutation HP:0001428
2 chondrosarcoma HP:0006765

Drugs & Therapeutics for Extraskeletal Myxoid Chondrosarcoma

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Drug clinical trials:

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Genetic Tests for Extraskeletal Myxoid Chondrosarcoma

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Anatomical Context for Extraskeletal Myxoid Chondrosarcoma

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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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MGI Mouse Phenotypes related to Extraskeletal Myxoid Chondrosarcoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7NR4A3, MUC1, SMARCB1, EWSR1
2MP:00107717.8S100B, NR4A3, PLAGL1, MUC1, EWSR1
3MP:00036317.7SMARCB1, TCF12, PRPH, PLAGL1, NR4A3, SIX3

Publications for Extraskeletal Myxoid Chondrosarcoma

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Articles related to Extraskeletal Myxoid Chondrosarcoma:

(show top 50)    (show all 158)
idTitleAuthorsYear
1
Extraskeletal myxoid chondrosarcoma arising in the femoral vein: a case report. (24818862)
2014
2
Diagnostic utility of molecular investigation in extraskeletal myxoid chondrosarcoma. (24508382)
2014
3
Activity of sunitinib in extraskeletal myxoid chondrosarcoma. (24703573)
2014
4
Anthracycline-based chemotherapy in extraskeletal myxoid chondrosarcoma: a retrospective study. (24345066)
2013
5
Extraskeletal myxoid chondrosarcoma of the neck. (23230139)
2013
6
Osseous myxochondroid sarcoma: a detailed study of 5 cases of extraskeletal myxoid chondrosarcoma of the bone. (23588370)
2013
7
A novel sarcoma with dual differentiation: clinicopathologic and molecular characterization of a combined synovial sarcoma and extraskeletal myxoid chondrosarcoma. (22743288)
2012
8
Extraskeletal myxoid chondrosarcoma: a review of 23 patients treated at a single referral center with long-term follow-up. (22678528)
2012
9
Identification of genes regulated by the EWS/NR4A3 fusion protein in extraskeletal myxoid chondrosarcoma. (22592656)
2012
10
Multicentric extraskeletal myxoid chondrosarcoma of uterine adnexa in a young female: an unusual presentation. (22499307)
2012
11
Chromosomal translocation-negative cellular extraskeletal myxoid chondrosarcoma in an adolescent female. (22804337)
2012
12
Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion, resembling extraskeletal myxoid chondrosarcoma: Case report with a review of Literature. (23252871)
2012
13
Intrathoracic rupture of an extraskeletal myxoid chondrosarcoma. (21547635)
2011
14
A case of highly aggressive extraskeletal myxoid chondrosarcoma. (21941486)
2011
15
Extraskeletal myxoid chondrosarcoma: a case report of complete remission by chemotherapy and review of the literature. (22315646)
2010
16
Cellular variant of extraskeletal myxoid chondrosarcoma with Ewing's sarcoma-like areas: a diagnostic pitfall in core needle biopsy. (20496272)
2010
17
Fine-needle aspiration cytology of extraskeletal myxoid chondrosarcoma: a case report. (19894252)
2010
18
Extraskeletal myxoid chondrosarcoma of the perineum. (19309044)
2009
19
Extraskeletal myxoid chondrosarcoma: Diagnosis of a rare soft tissue tumor based on fine needle aspiration cytology. (21938148)
2009
20
Extraskeletal myxoid chondrosarcoma of the cerebellopontine angle presenting during pregnancy. (18568733)
2008
21
Testicular metastasis of extraskeletal myxoid chondrosarcoma: report of first case. (18308379)
2008
22
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
23
Skeletal recurrences and metastases of extraskeletal myxoid chondrosarcoma. (17437101)
2007
24
Retroperitoneal extraskeletal myxoid chondrosarcoma]. (17175793)
2006
25
Extraskeletal myxoid chondrosarcoma arising from the clavicle. (16786132)
2006
26
Extraskeletal myxoid chondrosarcoma of the nasal cavity. (16816935)
2006
27
Prognosis of extraskeletal myxoid chondrosarcoma. (12820050)
2003
28
Extraskeletal myxoid chondrosarcoma as a second malignancy after bone marrow transplantation. (12652628)
2003
29
Microtubule-associated protein-2 and class III beta-tubulin are expressed in extraskeletal myxoid chondrosarcoma. (12748252)
2003
30
Extraskeletal myxoid chondrosarcoma of the chest wall masquerading as a breast tumor. A case report. (11917595)
2002
31
Extraskeletal myxoid chondrosarcoma. (11153986)
2001
32
Localization of (99m)Tc HMDP in an extraskeletal myxoid chondrosarcoma: a case report. (11376100)
2001
33
Extraskeletal myxoid chondrosarcoma: a light microscopic, immunohistochemical, ultrastructural and immuno-ultrastructural study indicating neuroendocrine differentiation. (11737310)
2001
34
Heart metastasis of extraskeletal myxoid chondrosarcoma. (11259746)
2001
35
Extraskeletal myxoid chondrosarcoma of the knee. (10883455)
2000
36
Extraskeletal myxoid chondrosarcoma with neuroendocrine differentiation]. (11038663)
1999
37
Molecular analysis of the fusion of EWS to an orphan nuclear receptor gene in extraskeletal myxoid chondrosarcoma. (9060841)
1997
38
Der(16)t(1;16)(q21;q13) as a secondary structural aberration in yet a third sarcoma, extraskeletal myxoid chondrosarcoma. (9408761)
1997
39
Translocation (9;22)(q22;q12). A recurrent chromosome abnormality in extraskeletal myxoid chondrosarcoma. (7773957)
1995
40
Extraskeletal myxoid chondrosarcoma with dedifferentiation. (8847071)
1995
41
The diagnosis of extraskeletal myxoid chondrosarcoma by fine needle aspiration. (8520007)
1995
42
Extraskeletal myxoid chondrosarcoma. A clinicopathologic study of ten patients with long-term follow-up. (1451062)
1992
43
Extraskeletal myxoid chondrosarcoma of the epiglottis: case report and review of the literature. (1901157)
1991
44
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
45
Recurrent breakpoints at 9q31 and 22q12.2 in extraskeletal myxoid chondrosarcoma. (3422040)
1988
46
Intrapulmonary presentation of extraskeletal myxoid chondrosarcoma of the extremity. Report of two cases. (3731040)
1986
47
Aspiration biopsy cytology of metastatic extraskeletal myxoid chondrosarcoma and its cytologic differential diagnosis. (3861047)
1985
48
Extraskeletal myxoid chondrosarcoma with "chordoid" features (chordoid sarcoma). (707436)
1978
49
Mandibular metastasis of an extraskeletal myxoid chondrosarcoma arising on the plantar surface of the foot: report of case. (273676)
1978
50
Extraskeletal myxoid chondrosarcoma. An analysis of 34 cases. (4261659)
1972

Variations for Extraskeletal Myxoid Chondrosarcoma

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Expression for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6TAF15, NR4A3, EWSR1

Compounds for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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44Novoseek
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Compounds related to Extraskeletal Myxoid Chondrosarcoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nor 14410.1NR4A3, EWSR1
2eosin449.2S100B, MUC1
3s 100449.2MUC1, S100B
4reticulin449.1S100B, MUC1
5mucicarmine449.1S100B, MUC1
6b 723449.0MUC1, S100B
7hematoxylin449.0S100B, MUC1
8paraffin448.4S100B, MUC1, EWSR1
9tyrosine448.0TFG, EWSR1, MUC1, NR4A3, S100B

GO Terms for genes affiliated with Extraskeletal Myxoid Chondrosarcoma

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.2EWSR1, MUC1, CHI3L1, PLAGL1, S100B, TAF15
2nucleusGO:0056346.7TAF15, EWSR1, SMARCB1, TCF12, PLAGL1, NR4A3

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

idNameGO IDScoreTop Affiliating Genes
1p53 bindingGO:0020399.3MUC1, SMARCB1

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet