EMC
MCID: CHN056
MIFTS: 42

Chondrosarcoma, Extraskeletal Myxoid (EMC)

Categories: Bone diseases, Cancer diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chondrosarcoma, Extraskeletal Myxoid

MalaCards integrated aliases for Chondrosarcoma, Extraskeletal Myxoid:

Name: Chondrosarcoma, Extraskeletal Myxoid 57 13 44
Extraskeletal Myxoid Chondrosarcoma 12 58 36 29 15 70
Myxoid Extraosseous Chondrosarcoma 12
Emc 57

Characteristics:

Orphanet epidemiological data:

58
extraskeletal myxoid chondrosarcoma
Inheritance: Not applicable; Age of onset: Adult; Age of death: adult;

HPO:

31
chondrosarcoma, extraskeletal myxoid:
Inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:6496
OMIM® 57 612237
KEGG 36 H00053
MeSH 44 C563195
NCIt 50 C27502
SNOMED-CT 67 404079008
ICD10 via Orphanet 33 C49.9
UMLS via Orphanet 71 C1275278
Orphanet 58 ORPHA209916
MedGen 41 C1275278
SNOMED-CT via HPO 68 124975008 14990007 443520009
UMLS 70 C1275278

Summaries for Chondrosarcoma, Extraskeletal Myxoid

KEGG : 36 Extraskeletal myxoid chondrosarcoma (EMC) is a unique, rare soft-tissue tumor with prominent myxoid morphology. The tumor most commonly develops in deep parts of the proximal extremities and limb girdles in middle-aged adults, and there is a predilection for male patients. Currently, a chromosomal translocation t(9;22)(q22;q12) and the resultant fusion gene, EWSR1-NR4A3, has been defined in approximately 75% of EMC. More recently, another fusion gene, TAF15-NR4A3, resulting from t(9;17)(q22;q11.2), has been identified. The abnormal proteins resulting from these fusion genes aberrantly affect gene transcription and cellular signaling pathways thought to be responsible for initiating sarcoma formation.

MalaCards based summary : Chondrosarcoma, Extraskeletal Myxoid, also known as extraskeletal myxoid chondrosarcoma, is related to liposarcoma and mesenchymal chondrosarcoma. An important gene associated with Chondrosarcoma, Extraskeletal Myxoid is NR4A3 (Nuclear Receptor Subfamily 4 Group A Member 3), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Chromatin Regulation / Acetylation. Affiliated tissues include kidney, bone and pineal, and related phenotypes are chondrosarcoma and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 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.

OMIM® : 57 Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most commonly found in middle-aged and elderly individuals, are more common among men, and are often detected as deep-seated lesions in the extremities. Despite their relatively low-grade malignancy, recurrence and metastasis may appear many years after the initial diagnosis. Histologic tissue section examination reveals a mixture of cellular and myxoid stromal components (Panagopoulos et al., 2002). (612237) (Updated 20-May-2021)

Wikipedia : 73 Extraskeletal myxoid chondrosarcoma (EMC) is a rare low-grade malignant mesenchymal neoplasm of the soft... more...

Related Diseases for Chondrosarcoma, Extraskeletal Myxoid

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

(show top 50) (show all 266)
# Related Disease Score Top Affiliating Genes
1 liposarcoma 31.4 TAF15 FUS EWSR1 DDIT3
2 mesenchymal chondrosarcoma 31.3 SYP SMARCB1 ENO2
3 myxoid liposarcoma 31.2 SS18 FUS EWSR1 DDIT3 CREB3L2
4 clear cell sarcoma 31.2 SYP FUS EWSR1 ENO2
5 sarcoma, synovial 31.1 SS18 SMARCB1 FUS EWSR1 DUX4
6 rhabdoid cancer 31.1 SYP SS18 SMARCB1 EWSR1
7 myxofibrosarcoma 31.0 SS18 FUS EWSR1 DDIT3 CREB3L2
8 rhabdomyosarcoma 2 30.8 SS18 EWSR1 ENO2
9 cellular myxoid liposarcoma 30.8 SS18 FUS EWSR1 DDIT3
10 myoepithelial carcinoma 30.6 ZNF444 SMARCB1 NR4A3 EWSR1
11 chondrosarcoma 30.5 TFG TAF15 NR4A3 EWSR1 ENO2
12 rhabdomyosarcoma 30.5 SYP SMARCB1 FUS EWSR1 ENO2 DUX4L1
13 ewing sarcoma 30.4 TAF15 SYP SS18 NR4A3 NFATC2 FUS
14 myxoid chondrosarcoma 30.1 TFG TCF12 TAF15 SYP SMARCB1 NR4A3
15 sarcoma 29.8 SS18 SMARCB1 PATZ1 NR4A3 FUS EWSR1
16 extraosseous chondrosarcoma 28.9 ZNF444 TFG TCF12 TAF15 SYP SS18
17 epithelial-myoepithelial carcinoma 11.0
18 soft tissue sarcoma 11.0
19 cerebellar atrophy, visual impairment, and psychomotor retardation 10.9
20 rare tumor 10.7
21 rare soft tissue tumor 10.6
22 chordoma 10.6
23 extraskeletal mesenchymal chondrosarcoma 10.5 TAF15 EWSR1
24 bone chondrosarcoma 10.5 TAF15 NR4A3
25 large cell carcinoma with rhabdoid phenotype 10.5 SMARCB1 ENO2
26 malignant melanocytic neoplasm of the peripheral nerve sheath 10.5 SYP ENO2
27 anal neuroendocrine tumor 10.5 SYP ENO2
28 cerebral neuroblastoma 10.5 SYP ENO2
29 neuronal intestinal dysplasia, type b 10.5 SYP ENO2
30 lung meningioma 10.5 SYP ENO2
31 glomangiosarcoma 10.5 ZNF444 SYP
32 sinonasal undifferentiated carcinoma 10.5 SYP ENO2
33 lung sarcoma 10.5 TAF15 EWSR1
34 auditory system benign neoplasm 10.5 SYP ENO2
35 ewing sarcoma of bone 10.5 EWSR1 ENO2
36 papillary tumor of the pineal region 10.5 SYP ENO2
37 auditory system cancer 10.5 SYP ENO2
38 bile duct mucinous adenocarcinoma 10.5 SYP ENO2
39 nodular prostate 10.5 SYP ENO2
40 ampulla of vater benign neoplasm 10.5 SYP ENO2
41 appendix carcinoid tumor 10.5 SYP ENO2
42 laryngeal neuroendocrine tumor 10.5 SYP SMARCB1
43 central nervous system mesenchymal non-meningothelial tumor 10.5 EWSR1 ENO2
44 carotid body cancer 10.5 SYP ENO2
45 gallbladder small cell carcinoma 10.5 SYP ENO2
46 ureter small cell carcinoma 10.5 SYP ENO2
47 cerebellar liponeurocytoma 10.5 SYP ENO2
48 middle ear adenoma 10.5 SYP ENO2
49 cerebellopontine angle primitive neuroectodermal tumor 10.5 SYP ENO2
50 plexiform schwannoma 10.5 SMARCB1 ENO2

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



Diseases related to Chondrosarcoma, Extraskeletal Myxoid

Symptoms & Phenotypes for Chondrosarcoma, Extraskeletal Myxoid

Human phenotypes related to Chondrosarcoma, Extraskeletal Myxoid:

31
# Description HPO Frequency HPO Source Accession
1 chondrosarcoma 31 HP:0006765

Clinical features from OMIM®:

612237 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Chondrosarcoma, Extraskeletal Myxoid according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 9.6 SMARCB1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.6 SMARCB1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-113 9.6 NFATC2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.6 DUX4L7
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 9.6 SMARCB1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.6 NFATC2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-146 9.6 NFATC2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.6 DUX4 DUX4L7 DUX4L8
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 9.6 NFATC2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.6 NFATC2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.6 SMARCB1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 9.6 NFATC2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.6 DUX4L7
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 9.6 NFATC2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-83 9.6 SMARCB1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.6 NFATC2 SMARCB1

Drugs & Therapeutics for Chondrosarcoma, Extraskeletal Myxoid

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Open-Label Trial of Pazopanib Administered as a Single Agent in Patients With Unresectable or Metastatic Solitary Fibrous Tumor (SFT) and Extraskeletal Myxoid Chondrosarcoma (EMC) Active, not recruiting NCT02066285 Phase 2 Pazopanib

Search NIH Clinical Center for Chondrosarcoma, Extraskeletal Myxoid

Cochrane evidence based reviews: chondrosarcoma, extraskeletal myxoid

Genetic Tests for Chondrosarcoma, Extraskeletal Myxoid

Genetic tests related to Chondrosarcoma, Extraskeletal Myxoid:

# Genetic test Affiliating Genes
1 Extraskeletal Myxoid Chondrosarcoma 29 NR4A3 TAF15

Anatomical Context for Chondrosarcoma, Extraskeletal Myxoid

MalaCards organs/tissues related to Chondrosarcoma, Extraskeletal Myxoid:

40
Kidney, Bone, Pineal, Lung, Cerebellum, Breast, Prostate

Publications for Chondrosarcoma, Extraskeletal Myxoid

Articles related to Chondrosarcoma, Extraskeletal Myxoid:

(show top 50) (show all 353)
# Title Authors PMID Year
1
TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma. 61 57
15188455 2004
2
Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma. 61 57
12378528 2002
3
Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21). 61 57
11156374 2000
4
Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation. 57 61
8634690 1995
5
Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma. 61 57
7635565 1995
6
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. 61 57
1782363 1991
7
Recurrent breakpoints at 9q31 and 22q12.2 in extraskeletal myxoid chondrosarcoma. 57 61
3422040 1988
8
Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11). 57
10602519 1999
9
The EWS/TEC fusion protein encoded by the t(9;22) chromosomal translocation in human chondrosarcomas is a highly potent transcriptional activator. 57
10359536 1999
10
Fusion of the EWS gene to a DNA segment from 9q22-31 in a human myxoid chondrosarcoma. 57
7539287 1995
11
Myxoid chondrosarcoma with a translocation involving chromosomes 9 and 22. 57
3967207 1985
12
Relevance of the combination of external beam radiotherapy with the hypoxia-activated prodrug ICF05016 in an experimental model of extraskeletal myxoid chondrosarcoma. 61
32948981 2021
13
Extraskeletal Myxoid Chondrosarcoma with Molecularly Confirmed Diagnosis: A Multicenter Retrospective Study Within the Italian Sarcoma Group. 61
32572850 2021
14
ASO Author Reflections: Extraskeletal Myxoid Chondrosarcoma: A Rare Sarcoma Associated With Prolonged Survival. 61
32607606 2020
15
Locally recurrent extraskeletal myxoid chondrosarcoma of the shoulder: a case of complete neoadjuvant radiotherapy response. 61
33308312 2020
16
Extraskeletal myxoid chondrosarcoma: A high incidence of metastatic disease to lymph nodes. 61
32808356 2020
17
Extraskeletal myxoid chondrosarcoma: a case report with adjuvant intraoperative treatment. 61
33391642 2020
18
Detection of Structural Variants in Circulating Cell-Free DNA from Sarcoma Patients Using Next Generation Sequencing. 61
33287361 2020
19
Curability of patients with lymph node metastases from extremity soft-tissue sarcoma. 61
32910462 2020
20
Long-term Outcomes for Extraskeletal Myxoid Chondrosarcoma: A SEER Database Analysis. 61
32856598 2020
21
Extraskeletal Myxoid Chondrosarcoma of the Vulva Confirmed by EWSR1 FISH: A Case Report and Review of the Literature. 61
33075019 2020
22
Extraskeletal Myxoid Chondrosarcoma: State of the Art and Current Research on Biology and Clinical Management. 61
32967265 2020
23
Extraskeletal myxoid chondrosarcoma: combining cytopathology with molecular testing to achieve diagnostic accuracy. 61
32828707 2020
24
SWI/SNF complex-deficient soft tissue neoplasms: An update. 61
32646614 2020
25
Design, synthesis and evaluation of targeted hypoxia-activated prodrugs applied to chondrosarcoma chemotherapy. 61
32208207 2020
26
A renal cell carcinoma with EWSR1-TFE3 fusion gene. 61
31774608 2020
27
The Extracompartmental Tumoral Invasion of Extraskeletal Myxoid Chondrosarcoma Induces Distant Metastasis. 61
32014950 2020
28
Extraskeletal Myxoid Chondrosarcoma: Clinical and Molecular Characteristics and Outcomes of Patients Treated at Two Institutions. 61
32612944 2020
29
Apatinib for Treatment of Inoperable Metastatic or Locally Advanced Chondrosarcoma: What We Can Learn About the Biological Behavior of Chondrosarcoma from a Two-Center Study. 61
32547189 2020
30
Results of a prospective phase 2 study of pazopanib in patients with surgically unresectable or metastatic chondrosarcoma. 61
31509242 2020
31
Extraskeletal Myxoid Chondrosarcoma: Long-Term Survival in the Setting of Metastatic Disease. 61
32963861 2020
32
Extraskeletal Myxoid Chondrosarcoma of the Midfoot Presenting as Charcot Arthropathy: A Case Report. 61
31589174 2019
33
NR4A3 Immunohistochemistry Lacks Sensitivity for the Diagnosis of Extraskeletal Myxoid Chondrosarcoma. 61
31414988 2019
34
Pazopanib for treatment of advanced extraskeletal myxoid chondrosarcoma: a multicentre, single-arm, phase 2 trial. 61
31331701 2019
35
NR4A3 fusion proteins trigger an axon guidance switch that marks the difference between EWSR1 and TAF15 translocated extraskeletal myxoid chondrosarcomas. 61
31020999 2019
36
EWSR1-NFATC2 Translocation-associated Sarcoma Clinicopathologic Findings in a Rare Aggressive Primary Bone or Soft Tissue Tumor. 61
30994538 2019
37
Extraskeletal Myxoid Chondrosarcoma of the Parotid Gland. 61
31909032 2019
38
A 5-year follow-up of vulval swelling due to extraskeletal myxoid chondrosarcoma: A rare case report. 61
30967942 2019
39
Extraskeletal myxoid chondrosarcoma of the leg in a child: A case report. 61
30985717 2019
40
A rare manifestation of extraskeletal myxoid chondrosarcoma with a huge expanding hematoma. 61
28187993 2019
41
Intraluminal EWSR1-CREB1 gene rearranged, low-grade myxoid sarcoma of the pulmonary artery resembling extraskeletal myxoid chondrosarcoma (EMC). 61
30326150 2019
42
Ewing's sarcoma/peripheral primitive neuroectodermal tumor with extraskeletal myxoid chondrosarcoma-like areas: a case report. 61
31933786 2019
43
Efficacy and Safety of Nanosomal Docetaxel Lipid Suspension-Based Chemotherapy in Sarcoma: A Multicenter, Retrospective Study. 61
31827370 2019
44
Fine-needle aspiration features of extraskeletal myxoid chondrosarcoma: A study of cytological and molecular features. 61
30353688 2018
45
Systemic manifestations of extraskeletal myxoid chondrosarcoma associated with a novel t(2;22)(q34;q12) EWS translocation in a child and a review of the literature. 61
30776935 2018
46
Molecular and Clinicopathologic Heterogeneity of Intracranial Tumors Mimicking Extraskeletal Myxoid Chondrosarcoma. 61
29924341 2018
47
Benefit of Radiotherapy in Extraskeletal Myxoid Chondrosarcoma: A Propensity Score Weighted Population-based Analysis of the SEER Database. 61
27819877 2018
48
Identification of an Actionable Mutation of KIT in a Case of Extraskeletal Myxoid Chondrosarcoma. 61
29937513 2018
49
[Primary extraskeletal myxoid chondrosarcoma of the corpus callosum: report of a case]. 61
29886600 2018
50
Extra-axial chordoma: a clinicopathologic analysis of six cases. 61
29560513 2018

Variations for Chondrosarcoma, Extraskeletal Myxoid

Expression for Chondrosarcoma, Extraskeletal Myxoid

Search GEO for disease gene expression data for Chondrosarcoma, Extraskeletal Myxoid.

Pathways for Chondrosarcoma, Extraskeletal Myxoid

Pathways related to Chondrosarcoma, Extraskeletal Myxoid according to KEGG:

36
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

Pathways related to Chondrosarcoma, Extraskeletal Myxoid according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.76 TAF15 SS18 SMARCB1 FUS EWSR1
2 11.45 TAF15 SS18 NR4A3 FUS EWSR1 ETV1
3
Show member pathways
11.33 ETV1 DDIT3 CREB3L2

GO Terms for Chondrosarcoma, Extraskeletal Myxoid

Cellular components related to Chondrosarcoma, Extraskeletal Myxoid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.1 ZNF444 TCF12 TAF15 SS18 SMARCB1 PATZ1
2 nucleoplasm GO:0005654 9.9 TCF12 TAF15 SMARCB1 PATZ1 NR4A3 NFATC2
3 SWI/SNF complex GO:0016514 9.37 SS18 SMARCB1
4 npBAF complex GO:0071564 9.32 SS18 SMARCB1
5 transcription factor complex GO:0005667 9.26 TCF12 NR4A3 NFATC2 DDIT3
6 chromatin GO:0000785 9.23 ZNF444 TCF12 SMARCB1 NR4A3 NFATC2 ETV1

Biological processes related to Chondrosarcoma, Extraskeletal Myxoid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.91 TAF15 PATZ1 NR4A3 NFATC2 FUS EWSR1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.81 TCF12 SS18 SMARCB1 NR4A3 NFATC2 ETV1
3 regulation of transcription by RNA polymerase II GO:0006357 9.7 ZNF444 TCF12 SMARCB1 PATZ1 NR4A3 NFATC2
4 positive regulation of transcription, DNA-templated GO:0045893 9.28 TCF12 TAF15 SS18 PATZ1 NFATC2 FUS

Molecular functions related to Chondrosarcoma, Extraskeletal Myxoid according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.97 ZNF444 TCF12 NR4A3 NFATC2 ETV1 DUX4
2 DNA-binding transcription factor activity GO:0003700 9.91 TCF12 NR4A3 NFATC2 ETV1 DDIT3 CREB3L2
3 sequence-specific double-stranded DNA binding GO:1990837 9.85 ZNF444 TCF12 NFATC2 ETV1 DUX4
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.81 ZNF444 TCF12 PATZ1 NR4A3 NFATC2 ETV1
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.72 TCF12 NFATC2 DUX4 DDIT3 CREB3L2
6 transcription coregulator activity GO:0003712 9.71 TAF15 SMARCB1 FUS EWSR1
7 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.5 TCF12 NR4A3 NFATC2 ETV1 DUX4 DDIT3
8 cAMP response element binding GO:0035497 9.43 TCF12 NR4A3 CREB3L2
9 DNA binding GO:0003677 9.4 ZNF444 TCF12 TAF15 SMARCB1 PATZ1 NR4A3

Sources for Chondrosarcoma, Extraskeletal Myxoid

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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