MCID: EPT012
MIFTS: 41

Epithelioid Sarcoma

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Epithelioid Sarcoma

MalaCards integrated aliases for Epithelioid Sarcoma:

Name: Epithelioid Sarcoma 12 20 58 15
Epithelioid Cell Sarcoma 12
Sarcoma, Epithelioid 70
Sarcoma Epithelioid 54

Characteristics:

Orphanet epidemiological data:

58
epithelioid sarcoma
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: young Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:6193
MeSH 44 D012509
NCIt 50 C3714
SNOMED-CT 67 782827000
ICD10 via Orphanet 33 C49.9
UMLS via Orphanet 71 C0205944
Orphanet 58 ORPHA293202
UMLS 70 C0205944

Summaries for Epithelioid Sarcoma

GARD : 20 Epithelioid sarcoma (ES) is a rare cancerous tumor that most often occurs in the soft tissue of the fingers, hands and forearms of young adults. It can also occur elsewhere in the body. ES usually begins as a painless, firm growth or bump that may be accompanied by an open wound ( ulceration ) in the skin covering the growth. This type of tumor often comes back after treatment or spreads to other parts the body ( metastasis ). The cause of epithelioid sarcoma is unknown. It is diagnosed by a clinical examination and by testing a small sample of the tumor ( biopsy ) in a laboratory. Epithelioid sarcoma is treated with surgery to remove all the cancer cells ( wide local excision ) and sometimes with radiation therapy. Chemotherapy may also be used if the cancer has spread to other parts of the body.

MalaCards based summary : Epithelioid Sarcoma, also known as epithelioid cell sarcoma, is related to central epithelioid sarcoma and vulvar proximal-type epithelioid sarcoma. An important gene associated with Epithelioid Sarcoma is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways is Cytoskeleton remodeling Neurofilaments. The drugs Doxorubicin and Liposomal doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and lung, and related phenotype is immune system.

Disease Ontology : 12 A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has material basis in mesenchymal tissue.

Wikipedia : 73 Epithelioid sarcoma is a rare soft tissue sarcoma arising from mesenchymal tissue and characterized by... more...

Related Diseases for Epithelioid Sarcoma

Diseases in the Epithelioid Sarcoma family:

Central Epithelioid Sarcoma Adult Epithelioid Sarcoma

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

(show top 50) (show all 503)
# Related Disease Score Top Affiliating Genes
1 central epithelioid sarcoma 32.1 VIM SYP SMARCB1 KRT7 CD34
2 vulvar proximal-type epithelioid sarcoma 32.0 VIM SYP SMARCB1 KRT7 CD34
3 epithelioid cell synovial sarcoma 31.9 SYP KRT7 CD34 CALB2
4 spindle cell sarcoma 31.9 VIM MUC1 KRT7 CD34
5 rhabdoid cancer 31.0 VIM SYP SMARCB1 PBRM1 MUC1
6 granuloma annulare 30.8 VIM CD68
7 pneumothorax 30.8 VIM MUC1 CALB2
8 malignant fibrous histiocytoma 30.6 VIM MUC1 CD68
9 myoepithelioma 30.6 VIM SMARCB1 MUC1
10 vulvar sarcoma 30.5 SMARCB1 CD34
11 leiomyosarcoma 30.5 VIM PECAM1 MUC1
12 secretory meningioma 30.4 VIM SMARCB1 MUC1 KRT7
13 myoepithelial carcinoma 30.4 VIM SMARCB1 MUC1 KRT7
14 benign mesothelioma 30.4 VIM PECAM1 KRT7 CALB2
15 fibrous histiocytoma 30.3 VIM PECAM1 CD68 CD34
16 rhabdomyosarcoma 30.3 VIM SYP SMARCB1 KRT7 EGFR
17 pleomorphic liposarcoma 30.3 VIM MUC1 KRT8
18 rhabdoid meningioma 30.3 VIM SYP SMARCB1
19 atypical teratoid rhabdoid tumor 30.2 VIM SYP SMARCB1 MUC1 MIR193A
20 sweat gland cancer 30.2 SYP KRT8 KRT7
21 cutaneous fibrous histiocytoma 30.2 VIM CD68 CD34
22 sarcoma, synovial 30.2 VIM SMARCB1 MUC1 KRT8 KRT7 KRT1
23 fibroma 30.2 VIM PECAM1 CD68 CD34 CALB2
24 alveolar soft part sarcoma 30.1 VIM SYP EGFR
25 small cell cancer of the lung 30.1 SYP KRT7 EGFR
26 epithelioid malignant peripheral nerve sheath tumor 30.1 SMARCB1 MUC1 CD34
27 pseudosarcomatous fibromatosis 30.0 VIM PECAM1 CD68 CD34
28 chondrosarcoma, extraskeletal myxoid 30.0 SYP SMARCB1 CD34
29 vulvar disease 30.0 KRT7 EGFR CD34
30 mesenchymal cell neoplasm 29.9 PECAM1 CD68 CD34
31 connective tissue benign neoplasm 29.9 PECAM1 CD68 CD34 CALB2
32 myxoid chondrosarcoma 29.9 SYP SMARCB1 MUC1 CD68
33 in situ carcinoma 29.9 MUC1 MIR193A KRT8 EGFR
34 malignant pleural mesothelioma 29.9 MUC1 MIR193A EGFR CALB2
35 chordoma 29.9 VIM SMARCB1 PBRM1 MUC1 KRT7 EGFR
36 extraosseous osteosarcoma 29.8 CD68 CD34
37 malignant peripheral nerve sheath tumor 29.7 VIM SMARCB1 MUC1 KRT7 EGFR CD34
38 neurilemmoma 29.7 VIM SMARCB1 MUC1 CD34 CALB2
39 lung cancer susceptibility 3 29.7 PECAM1 MUC1 KRT7 EGFR CALB2
40 monophasic synovial sarcoma 29.7 VIM MUC1 KRT7 CD34 CALB2
41 myxofibrosarcoma 29.7 MUC1 CD34 CD109
42 liposarcoma 29.6 VIM CD68 CD34 CALB2
43 angiosarcoma 29.5 VIM PECAM1 MUC1 KRT8 KRT7 CD68
44 vascular cancer 29.4 SYP PECAM1 KRT7 CD68 CD34
45 meningioma, familial 29.1 VIM SYP SMARCB1 MUC1 EGFR CD68
46 peripheral epithelioid sarcoma 11.3
47 pediatric epithelioid sarcoma 11.3
48 adult epithelioid sarcoma 11.3
49 hemangioendothelioma 11.2
50 sarcoma 11.2

Graphical network of the top 20 diseases related to Epithelioid Sarcoma:



Diseases related to Epithelioid Sarcoma

Symptoms & Phenotypes for Epithelioid Sarcoma

MGI Mouse Phenotypes related to Epithelioid Sarcoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.4 CD109 CD34 CD68 CDH5 EGFR KRT1

Drugs & Therapeutics for Epithelioid Sarcoma

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
2
Liposomal doxorubicin Phase 3 31703
3 Antibiotics, Antitubercular Phase 3
4 Anti-Bacterial Agents Phase 3
5
Lysine Approved, Nutraceutical 56-87-1 5962

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 1b/3 Global, Randomized, Double-blind, Placebo-Controlled Trial of Tazemetostat in Combination With Doxorubicin as Frontline Therapy for Advanced Epithelioid Sarcoma Recruiting NCT04204941 Phase 3 Tazemetostat;Placebo;Doxorubicin HCl
2 Epithelioid Sarcoma Natural History Study Unknown status NCT03837678
3 Epithelioid Sarcoma. An Observational Study Recruiting NCT03099681
4 Tazemetostat Expanded Access Program for Adults With Epithelioid Sarcoma No longer available NCT04225429 Tazemetostat
5 Tazemetostat Expanded Access Program for Adults With Solid Tumors Temporarily not available NCT03874455 Tazemetostat

Search NIH Clinical Center for Epithelioid Sarcoma

Genetic Tests for Epithelioid Sarcoma

Anatomical Context for Epithelioid Sarcoma

MalaCards organs/tissues related to Epithelioid Sarcoma:

40
Breast, Skin, Lung, Liver, Kidney, Lymph Node, Bone

Publications for Epithelioid Sarcoma

Articles related to Epithelioid Sarcoma:

(show top 50) (show all 909)
# Title Authors PMID Year
1
[Epithelioid sarcoma: morphologic variants and differential diagnosis]. 54 61
19997734 2010
2
Epithelioid sarcoma of the parotid gland of a child. 61 54
19335024 2009
3
Primary epithelioid sarcoma of bone: report of a unique case, with immunohistochemical and fluorescent in situ hybridization confirmation of INI1 deletion. 54 61
19342946 2009
4
Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. 61 54
19033866 2009
5
INI1 and GLUT-1 expression in epithelioid sarcoma and its cutaneous neoplastic and nonneoplastic mimics. 61 54
19318800 2009
6
Epithelioid sarcoma: a case report with ultrastructural confirmation of myofibroblastic differentiation based on fibronexus junctions. 61 54
19274582 2009
7
Epithelioid sarcoma: a clinicopathologic and immunohistochemical analysis of 106 cases from the French sarcoma group. 61 54
19141382 2009
8
Epithelioid sarcoma of Enzinger. 61 54
16778474 2006
9
Evaluation of perineurial differentiation in epithelioid sarcoma. 61 54
16324194 2005
10
CA125 expression in epithelioid sarcoma. 54 61
15078911 2004
11
Epithelioid sarcoma: new insights based on an extended immunohistochemical analysis. 54 61
12946229 2003
12
Cytokeratin 7 and 20 expression in epithelioid sarcoma. 54 61
12680954 2003
13
Epithelioid sarcomas with elevated serum CA125: report of two cases. 61 54
12672792 2003
14
Epithelioid sarcoma: an immunohistochemical analysis evaluating the utility of cytokeratin 5/6 in distinguishing superficial epithelioid sarcoma from spindled squamous cell carcinoma. 54 61
12641789 2003
15
Keratin 1 expression in endothelia and mesenchymal tumors: an immunohistochemical analysis of normal and neoplastic tissues. 61 54
11521233 2001
16
Spindle cell variant of epithelioid sarcoma: an easily misdiagnosed tumour. 61 54
11309041 2001
17
Growth inhibitory effects of paclitaxel on human epithelioid sarcoma in vitro: heterogeneity of response and the multidrug resistance phenotype. 61 54
10738220 2000
18
Immunoblot analysis of CD34 expression in histologically diverse neoplasms. 54 61
10623649 2000
19
Epithelioid sarcoma: presence of vascular-endothelial cadherin and lack of epithelial cadherin. 61 54
9839166 1998
20
Immunoreactivity for the human hematopoietic progenitor cell antigen (CD34) in lipomatous tumors. 61 54
9042286 1997
21
Vimentin-negative epithelioid sarcoma. The value of an immunohistochemical panel that includes CD34. 61 54
7679559 1993
22
The fibroma-like variant of epithelioid sarcoma. A fibrohistiocytic/myoid cell lesion often confused with benign and malignant spindle cell tumors. 61 54
1371711 1992
23
Undifferentiated carcinoma of the vulva mimicking epithelioid sarcoma. 54 61
1718178 1991
24
Cytoskeletal heterogeneity of an epithelioid sarcoma with expression of vimentin, cytokeratins, and neurofilaments. 61 54
1689556 1990
25
Multidirectional differentiation in a newly established human epithelioid sarcoma cell line (GRU-1) with co-expression of vimentin, cytokeratins and neurofilament proteins. 54 61
1688830 1990
26
Tazemetostat for advanced epithelioid sarcoma: current status and future perspectives. 61
33289402 2021
27
Epithelioid Sarcoma of the Tongue: An Unusual Tumor Mimic for Squamous Cell Carcinoma. 61
32814436 2021
28
Intestinal epithelioid sarcoma. 61
33051050 2021
29
Epithelioid Sarcoma: a Clinicopathological Study of 12 Head and Neck Cases. 61
33751732 2021
30
Correction to: A case of primary distal-type epithelioid sarcoma of the lumbar vertebra with a review of literature. 61
33206219 2021
31
Cytomorphological features of an unusual case of a multifocal pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma in a young adult male. 61
32886445 2021
32
Epithelioid Sarcoma Arising in a Long-Term Survivor of an Atypical Teratoid/Rhabdoid Tumor in a Patient With Rhabdoid Tumor Predisposition Syndrome. 61
33470921 2021
33
INSM1 Expression in Angiosarcoma. 61
33210141 2021
34
Soft-tissue Sarcoma of the Hand: Patient Characteristics, Treatment, and Oncologic Outcomes. 61
32932303 2021
35
A Population-based Analysis of Lymph Node Metastasis in Extremity Soft Tissue Sarcoma: An Update. 61
33561723 2021
36
Epithelioid sarcoma with retained INI1 (SMARCB1) expression. 61
32799369 2021
37
SWI/SNF-deficient head and neck neoplasms: An overview. 61
33663878 2021
38
The incidence of unplanned excision in patients with soft tissue sarcoma: Reports from the Bone and Soft Tissue Tumor registry in Japan. 61
33558102 2021
39
Epithelioid Sarcoma in a Young Child: A Case Report and Literature Review. 61
33680643 2021
40
Para-spermatic cord proximal-type epithelioid sarcoma. 61
33414109 2021
41
An extremely rare epithelioid sarcoma arising from the infratemporal fossa: a case report and literature review. 61
33397242 2021
42
Epithelioid sarcoma of the upper limb with nine years of evolution. 61
33288368 2021
43
Vulvar epithelioid sarcoma: A case report with literature review. 61
33494986 2021
44
Epithelioid Sarcoma of the External Auditory Canal: An Uncommon Tumor at an Unusual Site and a Brief Overview of the Literature. 61
33394376 2021
45
Distal-type epitheloid sarcoma mimicking a wart in a child: A diagnosis not to be missed. 61
33247494 2021
46
Imaging Features of Primary Tumors of the Hand. 61
32811403 2021
47
Epigenetics and beyond: targeting writers of protein lysine methylation to treat disease. 61
33469207 2021
48
A novel CLTC-FOSB gene fusion in pseudomyogenic hemangioendothelioma of bone. 61
32749039 2021
49
Recurrent FOS rearrangement in proliferative fasciitis/proliferative myositis. 61
33318581 2020
50
Inhibition of EZH2 enhances the therapeutic effect of 5-FU via PUMA upregulation in colorectal cancer. 61
33311453 2020

Variations for Epithelioid Sarcoma

Cosmic variations for Epithelioid Sarcoma:

9 (show all 11)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM151739047 SMARCB1 soft tissue,proximal,epithelioid sarcoma,NS c.769C>T p.Q257* 22:23816910-23816910 6
2 COSM105074075 SMARCB1 soft tissue,proximal,epithelioid sarcoma,NS c.742C>T p.Q248* 22:23816910-23816910 6
3 COSM85813716 SMARCB1 soft tissue,proximal,epithelioid sarcoma,NS c.631C>T p.Q211* 22:23816910-23816910 6
4 COSM90109285 SMARCB1 soft tissue,proximal,epithelioid sarcoma,NS c.796C>T p.Q266* 22:23816910-23816910 6
5 COSM97107943 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 6
6 COSM99962766 DICER1 soft tissue,proximal,epithelioid sarcoma,NS c.4859G>T p.S1620I 14:95096061-95096061 6
7 COSM92469558 DICER1 soft tissue,proximal,epithelioid sarcoma,NS c.4859G>T p.S1620I 14:95096061-95096061 6
8 COSM128916724 DICER1 soft tissue,proximal,epithelioid sarcoma,NS c.4859G>T p.S1620I 14:95096061-95096061 6
9 COSM131480755 DICER1 soft tissue,proximal,epithelioid sarcoma,NS c.4859G>T p.S1620I 14:95096061-95096061 6
10 COSM134826800 DICER1 soft tissue,proximal,epithelioid sarcoma,NS c.1553G>T p.S518I 14:95096061-95096061 6
11 COSM127771765 DICER1 soft tissue,proximal,epithelioid sarcoma,NS c.4859G>T p.S1620I 14:95096061-95096061 6

Expression for Epithelioid Sarcoma

Search GEO for disease gene expression data for Epithelioid Sarcoma.

Pathways for Epithelioid Sarcoma

Pathways related to Epithelioid Sarcoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.96 VIM KRT8 KRT7 KRT1

GO Terms for Epithelioid Sarcoma

Cellular components related to Epithelioid Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell periphery GO:0071944 9.13 KRT8 CDH5 CD34
2 intermediate filament GO:0005882 8.92 VIM KRT8 KRT7 KRT1

Biological processes related to Epithelioid Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 9.46 PECAM1 EGFR CDH5 CD34
2 positive regulation of histone H4 acetylation GO:0090240 8.96 SMARCB1 MUC1
3 glomerular endothelium development GO:0072011 8.62 PECAM1 CD34

Sources for Epithelioid Sarcoma

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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