MCID: EPT012
MIFTS: 49

Epithelioid Sarcoma

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Epithelioid Sarcoma

MalaCards integrated aliases for Epithelioid Sarcoma:

Name: Epithelioid Sarcoma 12 53 59 15
Epithelioid Cell Sarcoma 12
Sarcoma, Epithelioid 72
Sarcoma Epithelioid 55

Characteristics:

Orphanet epidemiological data:

59
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
NCIt 50 C3714
SNOMED-CT 68 59238007
ICD10 via Orphanet 34 C49.9
UMLS via Orphanet 73 C0205944
Orphanet 59 ORPHA293202
UMLS 72 C0205944

Summaries for Epithelioid Sarcoma

NIH Rare Diseases : 53 Epithelioid sarcoma is a rare cancer that most often occurs in the soft tissue of the fingers, hands and forearms of young adults. It may also be found in the legs, trunk, head or neck regions. It is rare in young children and adults, and it occurs more frequently in men. Epithelioid sarcoma begins as a painless, firm growth or bump that may be accompanied by an open wound (ulceration) in the skin covering the growth. It is considered an aggressive cancer because it has a high chance of regrowing after treatment (a recurrence), or spreading to surrounding tissues or more distant parts of the body (a metastasis). Epithelioid sarcoma is first treated with surgery to remove all the cancer cells (wide local excision). Amputation of part of the affected limb may be needed in severe cases. Radiation therapy or chemotherapy may also be used to destroy any cancer cells not removed during surgery.

MalaCards based summary : Epithelioid Sarcoma, also known as epithelioid cell sarcoma, is related to spindle cell sarcoma and rhabdoid tumor predisposition syndrome 1. 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 are Cytoskeletal Signaling and Cytoskeleton remodeling Neurofilaments. The drugs Ifosfamide and Mechlorethamine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lymph node, and related phenotypes are cardiovascular system and embryo

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 : 75 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 280)
# Related Disease Score Top Affiliating Genes
1 spindle cell sarcoma 32.3 VIM MUC1 KRT7
2 rhabdoid tumor predisposition syndrome 1 31.5 VIM SMARCB1 MUC1
3 vulvar sarcoma 31.0 SMARCB1 KRT7
4 malignant fibroxanthoma 30.9 VIM MUC1
5 rhabdoid meningioma 30.8 VIM SMARCB1
6 perineurioma 30.8 VIM MUC1
7 epithelioid malignant peripheral nerve sheath tumor 30.7 SMARCB1 MUC1
8 sarcoma, synovial 30.7 VIM MUC1 KRT8 KRT7
9 biphasic synovial sarcoma 30.7 VIM MUC1
10 malignant peripheral nerve sheath tumor 30.6 VIM SMARCB1 MUC1
11 secretory meningioma 30.5 VIM MUC1 KRT7
12 meningioma, radiation-induced 30.4 VIM MUC1
13 myoepithelioma 30.4 VIM SMARCB1
14 monophasic synovial sarcoma 30.3 VIM MUC1 KRT7
15 spindle cell carcinoma 30.3 VIM MUC1 KRT7
16 pleomorphic liposarcoma 30.2 VIM MUC1 KRT8
17 chordoma 30.1 VIM SMARCB1 MUC1 KRT7
18 angiosarcoma 30.0 VIM PECAM1 MUC1 KRT8
19 central epithelioid sarcoma 12.6
20 vulvar proximal-type epithelioid sarcoma 12.5
21 peripheral epithelioid sarcoma 12.5
22 pediatric epithelioid sarcoma 12.5
23 adult epithelioid sarcoma 12.4
24 hemangioendothelioma 11.7
25 epithelioid inflammatory myofibroblastic sarcoma 11.7
26 epithelioid cell synovial sarcoma 11.6
27 sarcoma 11.2
28 soft tissue sarcoma 10.7
29 malignant peritoneal mesothelioma 10.6 VIM MUC1
30 papillary tumor of the pineal region 10.6 VIM MUC1
31 syringocystadenoma papilliferum 10.6 VIM MUC1
32 chordoid meningioma 10.6 VIM MUC1
33 fibrous meningioma 10.6 VIM MUC1
34 ossifying fibromyxoid tumor 10.6 VIM MUC1
35 clear cell ependymoma 10.6 VIM MUC1
36 endometrial mucinous adenocarcinoma 10.6 VIM MUC1
37 myxopapillary ependymoma 10.6 VIM MUC1
38 clear cell meningioma 10.6 VIM MUC1
39 adenofibroma 10.6 VIM MUC1
40 syringoma 10.6 VIM MUC1
41 rhabdoid cancer 10.6
42 benign metastasizing leiomyoma 10.6 VIM KRT7
43 solid adenocarcinoma with mucin production 10.6 MUC1 KRT7
44 papillary adenoma 10.6 VIM KRT7
45 endosalpingiosis 10.6 MUC1 KRT7
46 desmoplastic small round cell tumor 10.6 VIM MUC1
47 anaplastic ependymoma 10.6 VIM MUC1
48 cystadenoma 10.6 MUC1 KRT7
49 middle ear adenoma 10.6 MUC1 KRT7
50 perivascular epithelioid cell tumor 10.6 VIM MUC1

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 cardiovascular system MP:0005385 9.97 CDH5 KRT1 KRT8 PBRM1 PECAM1 SALL4
2 embryo MP:0005380 9.8 CDH5 KRT8 PBRM1 SALL4 SMARCB1 VIM
3 hematopoietic system MP:0005397 9.8 CDH5 KRT1 KRT8 PBRM1 PECAM1 SMARCB1
4 homeostasis/metabolism MP:0005376 9.76 CDH5 KRT1 KRT7 KRT8 PECAM1 SALL4
5 immune system MP:0005387 9.56 CDH5 KRT1 KRT8 PBRM1 PECAM1 SALL4
6 liver/biliary system MP:0005370 9.02 CDH5 KRT8 PBRM1 PECAM1 SMARCB1

Drugs & Therapeutics for Epithelioid Sarcoma

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

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ifosfamide Approved Phase 3 3778-73-2 3690
2
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
3
Lenograstim Approved, Investigational Phase 3 135968-09-1
4
Epirubicin Approved Phase 3 56420-45-2 41867
5
Etoposide Approved Phase 3 33419-42-0 36462
6
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
7
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
8
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
9
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
10
Trabectedin Approved, Investigational Phase 2, Phase 3 114899-77-3 108150
11
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
12
Histamine Approved, Investigational Phase 3 51-45-6 774
13
Cyproheptadine Approved Phase 3 129-03-3 2913
14 Immunologic Factors Phase 3
15
Isophosphamide mustard Phase 3 0
16 Immunosuppressive Agents Phase 3
17 Tubulin Modulators Phase 3
18 Antineoplastic Agents, Phytogenic Phase 3
19 Anti-Infective Agents Phase 3
20 Etoposide phosphate Phase 3
21 Nucleic Acid Synthesis Inhibitors Phase 3
22 Antimitotic Agents Phase 3
23 Antirheumatic Agents Phase 3
24 Alkylating Agents Phase 2, Phase 3
25 Antineoplastic Agents, Alkylating Phase 2, Phase 3
26
Liposomal doxorubicin Phase 2, Phase 3 31703
27 Anti-Bacterial Agents Phase 2, Phase 3
28 Antibiotics, Antitubercular Phase 2, Phase 3
29 Topoisomerase Inhibitors Phase 2, Phase 3
30 Gastrointestinal Agents Phase 3
31 Neurotransmitter Agents Phase 3
32 Anti-Allergic Agents Phase 3
33 Serotonin Antagonists Phase 3
34 Histamine H1 Antagonists Phase 3
35 Histamine Antagonists Phase 3
36 Dermatologic Agents Phase 3
37 Serotonin Agents Phase 3
38
Histamine Phosphate Phase 3 51-74-1 65513
39 Antipruritics Phase 3
40
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
41
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
42
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
43
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
44
Durvalumab Approved, Investigational Phase 2 1428935-60-7
45 Protein Kinase Inhibitors Phase 2
46 Angiogenesis Inhibitors Phase 2
47 Angiogenesis Modulating Agents Phase 2
48 Imatinib Mesylate Phase 1, Phase 2 220127-57-1 123596
49 lysine Phase 2
50 Antibodies Phase 2

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Localized Non-Rhabdomyosarcoma Soft Tissue Sarcomas Unknown status NCT00334854 Phase 3 doxorubicin hydrochloride;ifosfamide
2 Randomised Trial of Post-Operative Radiotherapy Given to Adult Patients With Extremity Soft Tissue Sarcoma [VORTEX] Completed NCT00423618 Phase 3
3 A Phase III Randomized Study of Preoperative Radiation Plus Surgery Versus Surgery Alone for Patients With Retroperitoneal Sarcomas (RPS) Completed NCT00091351 Phase 3
4 Randomised Trial Of Single Agent Doxorubicin Versus Doxorubicin Plus Ifosfamide In The First Line Treatment Of Advanced Or Metastatic Soft Tissue Sarcoma Completed NCT00061984 Phase 3 doxorubicin hydrochloride;ifosfamide
5 RANDOMISED TRIAL OF ADJUVANT CHEMOTHERAPY WITH HIGH-DOSE DOXORUBICIN, IFOSFAMIDE AND LENOGRASTIM IN HIGH GRADE SOFT TISSUE SARCOMA Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
6 MMT 95 Study For Rhabdomyosarcoma and Other Malignant Soft Tissue Tumors of Childhood Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
7 TRUSTS: A Phase IIB/III Multicenter Study Comparing the Efficacy of TRabectedin Administered as a 3-Hour or 24-Hour Infusion to Doxorubicin in Patients With Advanced or Metastatic Untreated Soft Tissue Sarcoma Terminated NCT01189253 Phase 2, Phase 3 doxorubicin hydrochloride;trabectedin
8 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
9 Randomized Phase II Study of Brostallicin (PNU-166196A) Versus Doxorubicin as First Line Chemotherapy in Patients With Advanced or Metastatic Soft Tissue Sarcoma Unknown status NCT00410462 Phase 2 brostallicin;doxorubicin hydrochloride
10 Phase II Evaluation of Temodal (Temozolomide, Schering) in Previously Treated Advanced Sarcomas Unknown status NCT00003718 Phase 2 temozolomide
11 A Phase II Trial of Dasatinib in Advanced Sarcomas Completed NCT00464620 Phase 2 Dasatinib
12 Phase II Study on ET-743 in Advanced Soft Tissue Sarcomas of the Adult Completed NCT00003939 Phase 2 trabectedin
13 A Multicenter Phase II Study of Continuous Dosing of Sunitinib (Sutent®, SU11248) in Non-GIST Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
14 Dose Finding and Phase II Study of STI 571 in Advanced Soft Tissue Sarcoma Completed NCT00006357 Phase 1, Phase 2 imatinib mesylate
15 Multicenter Parallel Phase II Trial of BI 2536 Administered as One Hour IV Infusion Every 3 Weeks in Defined Cohorts of Patients With Various Solid Tumors. A New Drug Screening Program of the EORTC Network of Core Institutions (NOCI) Completed NCT00526149 Phase 2 BI 2536
16 A Phase II, Multicenter Study of the EZH2 Inhibitor Tazemetostat in Adult Subjects With INI1-Negative Tumors or Relapsed/Refractory Synovial Sarcoma Recruiting NCT02601950 Phase 2 Tazemetostat
17 A Phase II Trial of Pazopanib and Durvalumab for Metastatic Soft Tissue Sarcoma Recruiting NCT03798106 Phase 2 Durvalumab, pazopanib
18 Phase II Study of Preoperative Intensity-Modulated Radiation Therapy for Soft-Tissue Sarcomas Terminated NCT00740597 Phase 2
19 Phase I Study To Determine The Safety Of Caelyx (Doxorubin HCI, Pegylated Liposomal) In Combination With Ifosfamide In Previously Untreated Adult Patients With Advanced And/Or Metastatic Soft Tissues Sarcomas Completed NCT00030784 Phase 1 ifosfamide;pegylated liposomal doxorubicin hydrochloride
20 A Phase 1 Study of the EZH2 Inhibitor Tazemetostat in Pediatric Subjects With Relapsed or Refractory INI1-Negative Tumors or Synovial Sarcoma Recruiting NCT02601937 Phase 1 Tazemetostat
21 VORTEX-BIOBANK: Prospective Sample Collection for the VORTEX Randomised Radiotherapy Trial in Patients With Extremity Soft Tissue Sarcoma [VORTEX BIOBANK] Unknown status NCT00900211
22 Epithelioid Sarcoma. An Observational Study Active, not recruiting NCT03099681
23 Epithelioid Sarcoma Natural History Study Active, not recruiting NCT03837678
24 An Evaluation of PET/CT Imaging as a Predictor of Disease Free Survival Following Neo-Adjuvant Chemotherapy for Soft Tissue Sarcoma Active, not recruiting NCT00346125 doxorubicin hydrochloride;ifosfamide;pegylated liposomal doxorubicin hydrochloride
25 Multimodal Immune Characterization of RAre Soft Tissue Sarcoma - MIRAS Project From SARRA (SARcome RAre) Project of the French Sarcoma Group Not yet recruiting NCT03967834
26 Tazemetostat Expanded Access Program for Adults With Solid Tumors Temporarily not available NCT03874455 Tazemetostat
27 Prevention of Mucositis in Children With AES-14 (IND#36978), a Glutamine Based Oral Care Regimen, for Patients Diagnosed With Solid Tumors: A Randomized Placebo-Controlled Clinical Study Withdrawn NCT00334984 glutamine

Search NIH Clinical Center for Epithelioid Sarcoma

Genetic Tests for Epithelioid Sarcoma

Anatomical Context for Epithelioid Sarcoma

MalaCards organs/tissues related to Epithelioid Sarcoma:

41
Skin, Bone, Lymph Node, Lung, Tongue, Brain, Cervix

Publications for Epithelioid Sarcoma

Articles related to Epithelioid Sarcoma:

(show top 50) (show all 823)
# Title Authors PMID Year
1
[Epithelioid sarcoma: morphologic variants and differential diagnosis]. 9 38
19997734 2010
2
Epithelioid sarcoma of the parotid gland of a child. 9 38
19335024 2009
3
Primary epithelioid sarcoma of bone: report of a unique case, with immunohistochemical and fluorescent in situ hybridization confirmation of INI1 deletion. 9 38
19342946 2009
4
INI1 and GLUT-1 expression in epithelioid sarcoma and its cutaneous neoplastic and nonneoplastic mimics. 9 38
19318800 2009
5
Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. 9 38
19033866 2009
6
Epithelioid sarcoma: a case report with ultrastructural confirmation of myofibroblastic differentiation based on fibronexus junctions. 9 38
19274582 2009
7
Epithelioid sarcoma: a clinicopathologic and immunohistochemical analysis of 106 cases from the French sarcoma group. 9 38
19141382 2009
8
Epithelioid sarcoma of Enzinger. 9 38
16778474 2006
9
Evaluation of perineurial differentiation in epithelioid sarcoma. 9 38
16324194 2005
10
CA125 expression in epithelioid sarcoma. 9 38
15078911 2004
11
Epithelioid sarcoma: new insights based on an extended immunohistochemical analysis. 9 38
12946229 2003
12
Cytokeratin 7 and 20 expression in epithelioid sarcoma. 9 38
12680954 2003
13
Epithelioid sarcomas with elevated serum CA125: report of two cases. 9 38
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. 9 38
12641789 2003
15
Keratin 1 expression in endothelia and mesenchymal tumors: an immunohistochemical analysis of normal and neoplastic tissues. 9 38
11521233 2001
16
Spindle cell variant of epithelioid sarcoma: an easily misdiagnosed tumour. 9 38
11309041 2001
17
Growth inhibitory effects of paclitaxel on human epithelioid sarcoma in vitro: heterogeneity of response and the multidrug resistance phenotype. 9 38
10738220 2000
18
Immunoblot analysis of CD34 expression in histologically diverse neoplasms. 9 38
10623649 2000
19
Epithelioid sarcoma: presence of vascular-endothelial cadherin and lack of epithelial cadherin. 9 38
9839166 1998
20
Immunoreactivity for the human hematopoietic progenitor cell antigen (CD34) in lipomatous tumors. 9 38
9042286 1997
21
Vimentin-negative epithelioid sarcoma. The value of an immunohistochemical panel that includes CD34. 9 38
7679559 1993
22
The fibroma-like variant of epithelioid sarcoma. A fibrohistiocytic/myoid cell lesion often confused with benign and malignant spindle cell tumors. 9 38
1371711 1992
23
Undifferentiated carcinoma of the vulva mimicking epithelioid sarcoma. 9 38
1718178 1991
24
Cytoskeletal heterogeneity of an epithelioid sarcoma with expression of vimentin, cytokeratins, and neurofilaments. 9 38
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. 9 38
1688830 1990
26
Epithelioid sarcoma in children, adolescents, and young adults: Localized, primary metastatic and relapsed disease. Treatment results of five Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry. 38
31215116 2019
27
Primary adrenal gland epithelioid sarcoma: A case report and literature review. 38
31087789 2019
28
Soft tissue sarcomas of the upper extremities: Maximizing treatment opportunities and outcomes. 38
31404317 2019
29
[Atypical epithelioid hemangioendothelioma: a clinicopathological analysis of eight cases]. 38
31422593 2019
30
A rare case of pseudomyogenic hemangioendothelioma (PHE)/epithelioid sarcoma-like hemangioendothelioma (ES-H) of the breast first misdiagnosed as metaplastic carcinoma by FNAB and review of the literature. 38
31311568 2019
31
Comparative Assessment of Antitumor Effects and Autophagy Induction as a Resistance Mechanism by Cytotoxics and EZH2 Inhibition in INI1-Negative Epithelioid Sarcoma Patient-Derived Xenograft. 38
31331120 2019
32
Magnetic resonance and computed tomography imaging features of epithelioid sarcoma in children and young adults with pathological and clinical correlation: a report from Children's Oncology Group study ARST0332. 38
30929036 2019
33
Infantile Epithelioid Sarcoma with Genomic Segmental Amplification of BIRC3/YAP1 as Double Minutes Plus Trisomy 2: A Case Report. 38
31215292 2019
34
Pseudomyogenic Hemangioendothelioma. 38
30576238 2019
35
Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma of bone: Clinicopathologic features of 5 cases. 38
31233904 2019
36
Probabilistic modeling of personalized drug combinations from integrated chemical screen and molecular data in sarcoma. 38
31208434 2019
37
Primary Epithelioid Sarcoma of the Zygomatic Bone. 38
27442626 2019
38
Clinical features and outcomes of young patients with epithelioid sarcoma: an analysis from the Children's Oncology Group and the European paediatric soft tissue Sarcoma Study Group prospective clinical trials. 38
30954717 2019
39
Loss of atrx cooperates with p53-deficiency to promote the development of sarcomas and other malignancies. 38
30970016 2019
40
Epithelioid sarcoma of paratesticular region: A case report of an unusual case. 38
30971563 2019
41
Pseudomyogenic Hemangioendothelioma (Epithelioid Sarcoma-Like Hemangioendothelioma). 38
31017450 2019
42
Proximal-Type Epithelioid Sarcoma in Skull Base: a Pathological Diagnosis Challenge with Other Intracranial Tumors. 38
29076075 2019
43
Multiple Eruptive Epithelioid Hemangiomas: A Subset of Cutaneous Cellular Epithelioid Hemangioma With Expression of FOS-B. 38
29266025 2019
44
Pseudomyogenic Hemangioendothelioma. 38
31130564 2019
45
Sternal reconstruction for primary sternal tumor in a post-coronary artery bypass grafting surgery patient. 38
31105953 2019
46
Undifferentiated epithelioid sarcoma presenting as a fever of unknown origin: a case report. 38
30684969 2019
47
[A Case of Epithelioid Sarcoma of the Sigmoid Mesocolon]. 38
30692474 2018
48
FNA of epithelioid sarcoma: Curie Institute experience and critical review of the literature. 38
30291790 2018
49
Proximal-type epithelioid sarcoma of the oral cavity: a case report and literature review. 38
30087080 2018
50
Management and outcome of acral soft-tissue sarcomas. 38
30418059 2018

Variations for Epithelioid Sarcoma

Cosmic variations for Epithelioid Sarcoma:

9 (show all 21)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM43687 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
2 COSM11333 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
3 COSM33806 SMARCB1 soft tissue,proximal,epithelioid sarcoma,NS c.769C>T p.Q257* 22:23816910-23816910 6
4 COSM4774989 SH2B3 soft tissue,upper leg,sarcoma,NS c.232G>A p.E78K 12:111418377-111418377 6
5 COSM6954536 NUP93 soft tissue,upper leg,sarcoma,NS c.116C>T p.A39V 16:56748363-56748363 6
6 COSM575 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 6
7 COSM487 HRAS soft tissue,neck,sarcoma,NS c.37G>A p.G13S 11:534286-534286 6
8 COSM6962232 DICER1 soft tissue,proximal,epithelioid sarcoma,NS c.4859G>T p.S1620I 14:95096061-95096061 6
9 COSM2923082 ANKRD11 soft tissue,upper leg,sarcoma,NS c.2882G>T p.R961L 16:89283660-89283660 6
10 COSM1640840 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
11 COSM307279 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
12 COSM2744872 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
13 COSM3937613 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
14 COSM307282 soft tissue,upper leg,sarcoma,NS c.362A>G p.H121R 17:7674890-7674890 6
15 COSM121082 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
16 COSM121084 soft tissue,upper leg,sarcoma,NS c.103C>T p.Q35* 17:7675113-7675113 6
17 COSM121083 soft tissue,upper leg,sarcoma,NS c.220C>T p.Q74* 17:7675113-7675113 6
18 COSM3388198 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
19 COSM121081 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
20 COSM307280 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
21 COSM307281 soft tissue,upper leg,sarcoma,NS c.245A>G p.H82R 17:7674890-7674890 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 11.75 VIM MUC1 KRT8 KRT7
2
Show member pathways
11.05 VIM KRT8 KRT7 KRT1 CAPZB
3 10.66 VIM CDH5

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 extracellular exosome GO:0070062 9.7 VIM PECAM1 MUC1 KRT8 KRT7 KRT1
2 keratin filament GO:0045095 9.43 KRT8 KRT7 KRT1
3 cell periphery GO:0071944 9.13 PECAM1 KRT8 CDH5
4 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 keratinization GO:0031424 9.5 KRT8 KRT7 KRT1
2 viral process GO:0016032 9.46 VIM SMARCB1 KRT8 KRT7
3 ATP-dependent chromatin remodeling GO:0043044 9.37 SMARCB1 PBRM1
4 nucleosome disassembly GO:0006337 9.26 SMARCB1 PBRM1
5 cornification GO:0070268 9.13 KRT8 KRT7 KRT1
6 positive regulation of histone H4 acetylation GO:0090240 8.62 SMARCB1 MUC1

Molecular functions related to Epithelioid Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.7 VIM SMARCB1 SALL4 PECAM1 PBRM1 MUC1
2 structural molecule activity GO:0005198 8.32 VIM

Sources for Epithelioid Sarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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