MCID: EPT012
MIFTS: 47

Epithelioid Sarcoma

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Epithelioid Sarcoma

MalaCards integrated aliases for Epithelioid Sarcoma:

Name: Epithelioid Sarcoma 12 54 60 15
Epithelioid Cell Sarcoma 12
Sarcoma, Epithelioid 74
Sarcoma Epithelioid 56

Characteristics:

Orphanet epidemiological data:

60
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 51 C3714
SNOMED-CT 69 59238007
ICD10 via Orphanet 35 C49.9
UMLS via Orphanet 75 C0205944
Orphanet 60 ORPHA293202
UMLS 74 C0205944

Summaries for Epithelioid Sarcoma

NIH Rare Diseases : 54 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 rhabdoid cancer and spindle cell 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 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 homeostasis/metabolism

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 : 77 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 235)
# Related Disease Score Top Affiliating Genes
1 rhabdoid cancer 31.1 SMARCB1 SYP
2 spindle cell sarcoma 30.9 KRT7 MUC1 VIM
3 malignant fibroxanthoma 30.7 MUC1 VIM
4 hemangiopericytoma, malignant 30.4 MUC1 VIM
5 vulvar sarcoma 30.3 KRT7 SMARCB1
6 sarcoma, synovial 30.3 KRT7 KRT8 MUC1 VIM
7 monophasic synovial sarcoma 30.1 KRT7 MUC1 VIM
8 pleomorphic liposarcoma 30.0 KRT8 MUC1 VIM
9 chordoma 29.8 KRT7 MUC1 SMARCB1 VIM
10 angiosarcoma 29.3 KRT8 MUC1 PECAM1 VIM
11 central epithelioid sarcoma 12.4
12 peripheral epithelioid sarcoma 12.4
13 pediatric epithelioid sarcoma 12.4
14 vulvar proximal-type epithelioid sarcoma 12.3
15 adult epithelioid sarcoma 12.2
16 hemangioendothelioma 11.6
17 epithelioid inflammatory myofibroblastic sarcoma 11.5
18 epithelioid cell synovial sarcoma 11.5
19 sarcoma 11.2
20 meningioma, radiation-induced 10.4 MUC1 VIM
21 polymorphous low-grade adenocarcinoma 10.4 MUC1 VIM
22 spindle cell synovial sarcoma 10.4 KRT7 SMARCB1
23 rhabdoid meningioma 10.4 SMARCB1 VIM
24 hidradenocarcinoma 10.4 KRT7 VIM
25 perineurioma 10.4 MUC1 VIM
26 pulmonary hemosiderosis 10.4 KRT7 MUC1
27 ampulla of vater cancer 10.4 KRT7 MUC1
28 duodenum cancer 10.4 KRT7 MUC1
29 signet ring cell adenocarcinoma 10.4 KRT7 MUC1
30 pseudomyxoma peritonei 10.4 KRT7 MUC1
31 pancreatic ductal carcinoma 10.4 KRT7 MUC1
32 bile duct adenocarcinoma 10.4 KRT7 MUC1
33 epithelioid malignant peripheral nerve sheath tumor 10.4 MUC1 SMARCB1
34 adenofibroma 10.4 MUC1 VIM
35 malignant peritoneal mesothelioma 10.4 MUC1 VIM
36 syringocystadenoma papilliferum 10.4 MUC1 VIM
37 ossifying fibromyxoid tumor 10.4 MUC1 VIM
38 fibrous meningioma 10.4 MUC1 VIM
39 endometrial mucinous adenocarcinoma 10.4 MUC1 VIM
40 biphasic synovial sarcoma 10.4 MUC1 VIM
41 clear cell meningioma 10.4 MUC1 VIM
42 nephrogenic adenofibroma 10.4 KRT7 KRT8
43 myxopapillary ependymoma 10.4 MUC1 VIM
44 papillary adenoma 10.4 KRT7 VIM
45 solid adenocarcinoma with mucin production 10.4 KRT7 MUC1
46 benign metastasizing leiomyoma 10.4 KRT7 VIM
47 endosalpingiosis 10.4 KRT7 MUC1
48 bile duct mucoepidermoid carcinoma 10.4 KRT7 MUC1
49 syringoma 10.4 MUC1 VIM
50 chondrosarcoma, extraskeletal myxoid 10.4 SMARCB1 SYP

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 CDH5 KRT1 KRT8 PECAM1 SALL4 SMARCB1
2 homeostasis/metabolism MP:0005376 9.23 CDH5 KRT1 KRT7 KRT8 PECAM1 SALL4

Drugs & Therapeutics for Epithelioid Sarcoma

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

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ifosfamide Approved Phase 3,Phase 2,Phase 1,Not Applicable 3778-73-2 3690
2
Mechlorethamine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 51-75-2 4033
3
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 23214-92-8 31703
4
Lenograstim Approved, Investigational Phase 3,Phase 2 135968-09-1
5
Carboplatin Approved Phase 3,Phase 2 41575-94-4 38904 10339178 498142
6
Epirubicin Approved Phase 3,Phase 2 56420-45-2 41867
7
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 6055-19-2, 50-18-0 2907
8
Vincristine Approved, Investigational Phase 3,Phase 2 2068-78-2, 57-22-7 5978
9
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
10
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 457193 2019
11
Trabectedin Approved, Investigational Phase 2, Phase 3 114899-77-3 108150
12
Cyproheptadine Approved Phase 3 129-03-3 2913
13
Histamine Approved, Investigational Phase 3 51-45-6 774
14
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1,Not Applicable 31703
15
Isophosphamide mustard Phase 3,Phase 2,Phase 1,Not Applicable 0
16 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Not Applicable
17 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
18 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
19 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable
20 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1,Not Applicable
21 Etoposide phosphate Phase 3,Phase 2
22 Anti-Infective Agents Phase 3,Phase 2
23 Immunosuppressive Agents Phase 3,Phase 2
24 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
25 Immunologic Factors Phase 3,Phase 2
26 Antimitotic Agents Phase 3,Phase 2
27 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
28 Antirheumatic Agents Phase 3,Phase 2
29 Gastrointestinal Agents Phase 3
30 Histamine Antagonists Phase 3
31 Antipruritics Phase 3
32 Dermatologic Agents Phase 3
33 Anti-Allergic Agents Phase 3
34
Histamine Phosphate Phase 3 51-74-1 65513
35 Serotonin Agents Phase 3
36 Serotonin Antagonists Phase 3
37 Histamine H1 Antagonists Phase 3
38 Neurotransmitter Agents Phase 3
39
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
40
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
41
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
42
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
43
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
44
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
45
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
46
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
47
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
48 Olaratumab Approved, Investigational Phase 2 1024603-93-7
49
Gemcitabine Approved Phase 2 95058-81-4 60750
50 Protein Kinase Inhibitors Phase 2,Phase 1

Interventional clinical trials:

(show all 37)
# Name Status NCT ID Phase Drugs
1 Ifosfamide and Doxorubicin, Radiation Therapy, and/or Surgery in Treating Young Patients With Localized Soft Tissue Sarcoma Unknown status NCT00334854 Phase 3 doxorubicin hydrochloride;ifosfamide
2 Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
3 Doxorubicin With or Without Ifosfamide and Pegfilgrastim in Treating Patients With Locally Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00061984 Phase 3 doxorubicin hydrochloride;ifosfamide
4 Surgery With or Without Radiation Therapy in Treating Patients With Primary Soft Tissue Sarcoma of the Retroperitoneum or Pelvis Completed NCT00091351 Phase 3
5 Randomised Trial of Volume of Post-operative Radiotherapy Given to Adult Patients With eXtremity Soft Tissue Sarcoma Completed NCT00423618 Phase 3
6 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
7 Surgery Followed by Chemotherapy in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
8 Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Hydrochloride Before Surgery in Treating Patients With Newly Diagnosed Non-rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery Active, not recruiting NCT02180867 Phase 2, Phase 3 Doxorubicin Hydrochloride;Ifosfamide;Pazopanib Hydrochloride
9 Doxorubicin Hydrochloride or Trabectedin in Treating Patients With Previously Untreated Advanced or Metastatic Soft Tissue Sarcoma Terminated NCT01189253 Phase 2, Phase 3 doxorubicin hydrochloride;trabectedin
10 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
11 Brostallicin or Doxorubicin as First-Line Therapy in Treating Patients With Relapsed, Refractory, or Metastatic Soft Tissue Sarcoma Unknown status NCT00410462 Phase 2 brostallicin;doxorubicin hydrochloride
12 Temozolomide in Treating Patients With Advanced Soft Tissue Sarcoma Unknown status NCT00003718 Phase 2 temozolomide
13 Trial of Dasatinib in Advanced Sarcomas Completed NCT00464620 Phase 2 Dasatinib
14 Cixutumumab and Temsirolimus in Treating Younger Patients With Recurrent or Refractory Sarcoma Completed NCT01614795 Phase 2 Temsirolimus
15 Sorafenib in Treating Patients With Metastatic, Locally Advanced, or Recurrent Sarcoma Completed NCT00245102 Phase 2 sorafenib tosylate
16 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2 romidepsin
17 Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
18 BI 2536 in Treating Patients With Recurrent or Metastatic Solid Tumors Completed NCT00526149 Phase 2 BI 2536
19 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
20 Ecteinascidin 743 in Treating Patients With Advanced Soft Tissue Sarcoma Completed NCT00003939 Phase 2 trabectedin
21 STI571 in Treating Patients With Recurrent or Refractory Soft Tissue Sarcoma Completed NCT00006357 Phase 1, Phase 2 imatinib mesylate
22 Combination Chemotherapy in Treating Children With Metastatic Rhabdomyosarcoma or Other Malignant Mesenchymal Tumors Completed NCT00025441 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
23 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
24 Doxorubicin With Upfront Dexrazoxane Plus Olaratumab for the Treatment of Advanced or Metastatic Soft Tissue Sarcoma Recruiting NCT02584309 Phase 2 Dexrazoxane;Doxorubicin;Olaratumab
25 Gemcitabine Hydrochloride With or Without Pazopanib Hydrochloride in Treating Patients With Refractory Soft Tissue Sarcoma Recruiting NCT01532687 Phase 2 Gemcitabine Hydrochloride;Pazopanib Hydrochloride
26 Intensity-Modulated Radiation Therapy in Treating Patients Undergoing Surgery for Stage IB, Stage II, or Stage III Soft Tissue Sarcoma Terminated NCT00740597 Phase 2
27 Cixutumumab and Doxorubicin Hydrochloride in Treating Patients With Unresectable, Locally Advanced, or Metastatic Soft Tissue Sarcoma Completed NCT00720174 Phase 1 Doxorubicin Hydrochloride
28 Liposomal Doxorubicin Plus Ifosfamide in Treating Patients With Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00030784 Phase 1 ifosfamide;pegylated liposomal doxorubicin hydrochloride
29 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
30 Ribociclib and Doxorubicin in Treating Patients With Metastatic or Advanced Soft Tissue Sarcomas That Cannot Be Removed by Surgery Recruiting NCT03009201 Phase 1 Doxorubicin;Ribociclib
31 Tissue Sample Collection From Patients With Soft Tissue Sarcoma of the Arms, Hands, Legs, or Feet Treated on Clinial Trial CRUK-VORTEX Unknown status NCT00900211
32 Studying Genes in Tissue Samples From Younger and Adolescent Patients With Soft Tissue Sarcomas Completed NCT01567046
33 An Observational Study on Epithelioid Sarcoma Active, not recruiting NCT03099681
34 Epithelioid Sarcoma Natural History Study Active, not recruiting NCT03837678
35 PET CT as Predictor of Response in Preoperative Chemotherapy for Soft Tissue Sarcoma Active, not recruiting NCT00346125 Not Applicable doxorubicin hydrochloride;ifosfamide;pegylated liposomal doxorubicin hydrochloride
36 Tazemetostat Expanded Access Program for Adults With Solid Tumors Temporarily not available NCT03874455 Tazemetostat
37 Glutamine in Preventing Oral Mucositis in Patients Receiving Chemotherapy for Sarcoma Withdrawn NCT00334984 Not Applicable 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:

42
Skin, Bone, Lymph Node, Tongue, Brain, Cervix, Bone Marrow

Publications for Epithelioid Sarcoma

Articles related to Epithelioid Sarcoma:

(show top 50) (show all 475)
# Title Authors Year
1
Undifferentiated epithelioid sarcoma presenting as a fever of unknown origin: a case report. ( 30684969 )
2019
2
Intramuscular Epithelioid Sarcoma Presenting as Extrinsic Flexor Tightness inA the Forearm. ( 29602652 )
2018
3
Anthracycline, Gemcitabine, and Pazopanib in Epithelioid Sarcoma: A Multi-institutional Case Series. ( 29800950 )
2018
4
Clinicopathological analysis of myxoid proximal-type epithelioid sarcoma. ( 29068073 )
2018
5
Cytomorphology of proximal epithelioid sarcoma in the paratesticular location. ( 29508464 )
2018
6
Proximal-type epithelioid sarcoma of the vulva: Cytopathological diagnosis of a rare neoplasm. ( 29683530 )
2018
7
European Organisation for Research and Treatment of Cancer Soft Tissue and Bone Sarcoma Group Experience with Advanced/Metastatic Epithelioid Sarcoma Patients Treated in Prospective Trials: Clinical Profile and Response to Systemic Therapy. ( 29550245 )
2018
8
Epithelioid Sarcoma Presenting as Recurrent Thumb Ulcer: a Lesson to Learn. ( 29887710 )
2018
9
An unusual presentation of pneumothorax associated with cystic lung metastasis from epithelioid sarcoma: A case report and review of the literature. ( 29541222 )
2018
10
SWI/SNF Chromatin-remodeling Complex Status in SMARCB1/INI1-preserved Epithelioid Sarcoma. ( 29309303 )
2018
11
Epithelioid sarcoma in the chest wall: a case report and literature review. ( 30006912 )
2018
12
Myoepithelial carcinoma or epithelioid sarcoma - A rare diagnosis with poor prognosis. A case report and review of literature. ( 30053614 )
2018
13
Proximal-type epithelioid sarcoma of the oral cavity: a case report and literature review. ( 30087080 )
2018
14
Intra-articular epithelioid sarcoma of the knee: a diagnostic challenge. ( 30091959 )
2018
15
Promising effects of eribulin for cystic lung metastases of epithelioid sarcoma: a case report. ( 30110017 )
2018
16
Primary intra-articular epithelioid sarcoma of the knee: Unusual presentation of a rare entity. ( 30140127 )
2018
17
Long period of relative quiescence in distal-type epithelioid sarcoma of the forearm with recurrence after surgery: A case report. ( 30200169 )
2018
18
Epithelioid sarcoma arising from the temporal space: A case report. ( 30235775 )
2018
19
FNA of epithelioid sarcoma: Curie Institute experience and critical review of the literature. ( 30291790 )
2018
20
Ultrasonography findings of proximal-type epithelioid sarcoma of the vulva: A case report. ( 30345044 )
2018
21
Primary Epithelioid Sarcoma of Orbit: A Case Report and Review of the Literature. ( 30652038 )
2018
22
Epithelioid sarcoma of the plantar fascia mimicking Morbus Ledderhose - A severe pitfall for clinical and histopathological misinterpretation. ( 29202999 )
2017
23
Proximal-Type Epithelioid Sarcoma: Report of an Unusual Case in the Uterine Cervix. ( 28381140 )
2017
24
Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma - a rare vascular neoplasm with deceptive morphology and distinctive immunophenotype. ( 29279595 )
2017
25
Proximal-Type Epithelioid Sarcoma in Skull Base: a Pathological Diagnosis Challenge with Other Intracranial Tumors. ( 29076075 )
2017
26
Phase 2 study of dasatinib in patients with alveolar soft part sarcoma, chondrosarcoma, chordoma, epithelioid sarcoma, or solitary fibrous tumor. ( 27696380 )
2017
27
Emmprin, released as a microvesicle in epithelioid sarcoma, interacts with fibroblasts. ( 28498412 )
2017
28
Can radical margins improve prognosis in primary and localized epithelioid sarcoma of the extremities? ( 29266231 )
2017
29
Management of Epithelioid Sarcoma of the Inguinal Region with Vascular Invasion. ( 28659687 )
2017
30
Different subtypes of epithelioid sarcoma and their clinical implication: long-term multi-institutional experience with a rare sarcoma. ( 28233450 )
2017
31
Retroperitoneal epithelioid sarcoma: A case report. ( 29290913 )
2017
32
Cutaneous pseudomyogenic (epithelioid sarcoma-like) haemangioendothelioma FOSB immunohistochemistry demonstrating the SERPINE1-FOSB fusion gene. ( 28622428 )
2017
33
INI Expressing Epithelioid Sarcoma with Osteoclastic Giant Cells in a Child: A Case Report with Summary of Prior Published Cases. ( 28541826 )
2017
34
Expression of CD34 and I^-Catenin in Malignant Rhabdoid Tumor of the Liver Mimicking Proximal-Type Epithelioid Sarcoma. ( 28683521 )
2017
35
A typical presentation of primary pulmonary epithelioid sarcoma misdiagnosed as non-small cell lung cancer. ( 28078765 )
2017
36
Cutaneous syncytial myoepithelioma: A recently described neoplasm which may mimic nevoid melanoma and epithelioid sarcoma. ( 28708250 )
2017
37
Management of Epithelioid Sarcoma of the Inguinal Region with Vascular Invasion. ( 27574351 )
2016
38
Epithelioid sarcoma-like hemangioendothelioma on the chest wall. ( 27493191 )
2016
39
Primary epithelioid sarcoma of the kidney and adrenal gland: report of 2 cases with immunohistochemical and molecular cytogenetic studies. ( 27769872 )
2016
40
Proximal-type epithelioid sarcoma: a new case report and literature review. ( 27800093 )
2016
41
Spectrum of cytopathologic features of epithelioid sarcoma in a series of 7 uncommon cases with immunohistochemical results, including loss of INI1/SMARCB1 in two test cases. ( 27145123 )
2016
42
Osteoclast-rich, proximal-type epithelioid sarcoma: clinicopathologic features of 3 unusual cases expanding the histomorphological spectrum. ( 27040929 )
2016
43
Epigenetic regulation of SMARCB1 By miR-206, -381 and -671-5p is evident in a variety of SMARCB1 immunonegative soft tissue sarcomas, while miR-765 appears specific for epithelioid sarcoma. A miRNA study of 223 soft tissue sarcomas. ( 27223121 )
2016
44
Epithelioid sarcoma of the vulva and its clinical implication: A case report and review of the literature. ( 26937486 )
2016
45
Primary Epithelioid Sarcoma of the Zygomatic Bone. ( 27442626 )
2016
46
Metastatic epithelioid sarcoma revealed with (18)F-FDGA PET/CT imaging. ( 27922155 )
2016
47
Aortic Endograft and Epithelioid Sarcoma: A Random Association or Causality? ( 27391643 )
2016
48
Proximal epithelioid sarcoma after a history of malignant melanoma: a diagnostic challenge. ( 27188643 )
2016
49
Epithelioid sarcoma with spontaneous pneumothorax and massive pleural effusion. ( 26767876 )
2016
50
Epithelioid Sarcoma: Diagnostic Features and Genetics. ( 26645461 )
2016

Variations for Epithelioid Sarcoma

Cosmic variations for Epithelioid Sarcoma:

9 (show all 30)
# 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 0
2 COSM11333 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 0
3 COSM33806 SMARCB1 soft tissue,proximal,epithelioid sarcoma,NS c.769C>T p.Q257* 22:23816910-23816910 0
4 COSM4774989 SH2B3 soft tissue,upper leg,sarcoma,NS c.232G>A p.E78K 12:111418377-111418377 0
5 COSM6954536 NUP93 soft tissue,upper leg,sarcoma,NS c.116C>T p.A39V 16:56748363-56748363 0
6 COSM575 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 0
7 COSM580 NRAS skin,trunk,malignant melanoma,nodular c.181C>A p.Q61K 1:114713909-114713909 0
8 COSM584 NRAS skin,neck,malignant melanoma,nodular c.182A>G p.Q61R 1:114713908-114713908 0
9 COSM585 NRAS skin,trunk,malignant melanoma,nodular c.183A>T p.Q61H 1:114713907-114713907 0
10 COSM5702513 KIT skin,forearm,malignant melanoma,nodular c.1883G>A p.S628N 4:54728014-54728014 0
11 COSM487 HRAS soft tissue,neck,sarcoma,NS c.37G>A p.G13S 11:534286-534286 0
12 COSM28757 GNAQ skin,hand,benign melanocytic nevus,epithelioid c.626A>T p.Q209L 9:77794572-77794572 0
13 COSM6962232 DICER1 soft tissue,proximal,epithelioid sarcoma,NS c.4859G>T p.S1620I 14:95096061-95096061 0
14 COSM5761 CTNNB1 skin,neck,malignant melanoma,nodular c.131C>T p.P44L 3:41224643-41224643 0
15 COSM13224 CDKN2A skin,forearm,malignant melanoma,nodular c.242C>T p.P81L 9:21971117-21971117 0
16 COSM12503 CDKN2A skin,trunk,malignant melanoma,nodular c.334C>G p.R112G 9:21971025-21971025 0
17 COSM476 BRAF skin,trunk,malignant melanoma,nodular c.1799T>A p.V600E 7:140753336-140753336 0
18 COSM2923082 ANKRD11 soft tissue,upper leg,sarcoma,NS c.2882G>T p.R961L 16:89283660-89283660 0
19 COSM1640840 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 0
20 COSM307279 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 0
21 COSM2744872 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 0
22 COSM3937613 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 0
23 COSM307282 soft tissue,upper leg,sarcoma,NS c.362A>G p.H121R 17:7674890-7674890 0
24 COSM121082 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 0
25 COSM121084 soft tissue,upper leg,sarcoma,NS c.103C>T p.Q35* 17:7675113-7675113 0
26 COSM121083 soft tissue,upper leg,sarcoma,NS c.220C>T p.Q74* 17:7675113-7675113 0
27 COSM3388198 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 0
28 COSM307280 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 0
29 COSM121081 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 0
30 COSM307281 soft tissue,upper leg,sarcoma,NS c.245A>G p.H82R 17:7674890-7674890 0

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 KRT7 KRT8 MUC1 VIM
2
Show member pathways
11.05 CAPZB KRT1 KRT7 KRT8 VIM
3 10.66 CDH5 VIM

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 CAPZB KRT1 KRT7 KRT8 MUC1 PECAM1
2 keratin filament GO:0045095 9.43 KRT1 KRT7 KRT8
3 cell periphery GO:0071944 9.13 CDH5 KRT8 PECAM1
4 intermediate filament GO:0005882 8.92 KRT1 KRT7 KRT8 VIM

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

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.46 KRT7 KRT8 SMARCB1 VIM
2 keratinization GO:0031424 9.43 KRT1 KRT7 KRT8
3 cornification GO:0070268 9.13 KRT1 KRT7 KRT8
4 positive regulation of histone H4 acetylation GO:0090240 8.62 MUC1 SMARCB1

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.92 KRT1 KRT7 KRT8 VIM

Sources for Epithelioid Sarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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