ES
MCID: EWN003
MIFTS: 72

Ewing Sarcoma (ES)

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

Aliases & Classifications for Ewing Sarcoma

MalaCards integrated aliases for Ewing Sarcoma:

Name: Ewing Sarcoma 57 12 53 25 59 75 37 13 15
Neuroepithelioma 57 76 53 59 55 73
Ewing's Sarcoma 76 53 25 29
Ewing's Tumor 12 53 25 75
Ewings Sarcoma 12 55 73
Eye Diseases 55 43 44
Localized Peripheral Primitive Neuroectodermal Tumor 12 73
Ewings Sarcoma-Primitive Neuroectodermal Tumor 12 73
Peripheral Primitive Neuroectodermal Tumor 12 59
Peripheral Neuroepithelioma 75 55
Abnormality of the Eye 29 6
Sarcoma, Ewing's 53 40
Askin Tumor 75 44
Eye Disease 12 15
Ewing Tumor 53 25
Es 57 75
Localized Ewing's Sarcoma/peripheral Primitive Neuroectodermal Tumor 12
Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor 73
Ewing's Sarcoma/peripheral Primitive Neuroectodermal Tumor 12
Neuroectodermal Tumors, Primitive, Peripheral 44
Neuroectodermal Tumor, Primitive 73
Pnet of Thoracopulmonary Region 12
Primitive Neuroectodermal Tumor 75
Ewing's Family Localized Tumor 12
Ewing Sarcoma Family of Tumors 75
Neuroepithelioma, Peripheral 73
Localized Ewing's Sarcoma 12
Tumor of the Ewing Family 25
Extraosseous Ewing Tumor 75
Localized Ewing Sarcoma 12
Localized Ewing's Tumor 12
Ewing Family of Tumors 25
Pnet of the Chest Wall 75
Peripheral Pnet 59
Disorder of Eye 73
Sarcoma, Ewing 44
Askin's Tumor 73
Ppnet 59
Pnet 75
Esft 75
Pne 75

Characteristics:

Orphanet epidemiological data:

59
ewing sarcoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Childhood;
neuroepithelioma
Inheritance: Not applicable; Age of onset: Childhood;

HPO:

32
ewing sarcoma:
Inheritance somatic mutation


Classifications:



External Ids:

OMIM 57 612219
Disease Ontology 12 DOID:3369 DOID:5614
ICD10 33 H44 H44.9
ICD9CM 35 360 360.9 379.90
UMLS via Orphanet 74 C0553580 C0027828 C0684337
MESH via Orphanet 45 D018241
KEGG 37 H00035
SNOMED-CT via HPO 69 124975008

Summaries for Ewing Sarcoma

Genetics Home Reference : 25 Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.

MalaCards based summary : Ewing Sarcoma, also known as neuroepithelioma, is related to extraskeletal ewing sarcoma and primitive neuroectodermal tumor of the cervix uteri, and has symptoms including fever, visual disturbance and eye manifestations. An important gene associated with Ewing Sarcoma is EWSR1 (EWS RNA Binding Protein 1), and among its related pathways/superpathways are Transcriptional misregulation in cancer and NF-kappaB Signaling. The drugs Abraxane and Abstral have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and lung, and related phenotypes are ewing sarcoma and Decreased viability

Disease Ontology : 12 A bone cancer that has_material_basis in neural crest cells derives from undeveloped, undifferentiated neuroectoderm.

NIH Rare Diseases : 53 Ewing sarcoma is a malignant (cancerous) bone tumor that affects children. It can occur any time during childhood and young adulthood, but usually develops during puberty, when bones are growing rapidly. The tumor may arise anywhere in the body, usually in the long bones of the arms and legs, the pelvis, or the chest. It may also develop in the skull or the flat bones of the trunk. There are few symptoms. The most common is pain and occasionally swelling at the site of the tumor. Fever may also be present. The tumor often spreads (metastasis) to the lungs and other bones. The cause of Ewing sarcoma is unknown. Most cases are thought to occur randomly and many involved a reciprocal translocation between chromosomes 11 and 22. Treatment depends upon a number of factors, but may include chemotherapy, radiation and/or surgical interventions.

OMIM : 57 The Ewing sarcoma family of tumors (primitive neuroectodermal tumors; PNET) comprise morphologically heterogeneous tumors that are characterized by nonrandom chromosomal translocations involving the EWS gene on chromosome 22q12 and one of several members of the ETS family of transcription factors. The tumors include Ewing sarcoma, peripheral neuroepithelioma, and Askin tumor. In approximately 90% of cases of ESFT, the FLI1 gene (193067) on chromosome 11 is the fusion partner of EWS; in approximately 10%, the EWS fusion partner is the ERG gene (165080) on chromosome 22. Many other ETS family members have been identified as fusion partners of EWS, but these cases are rare (Khoury, 2005). (612219)

MedlinePlus : 43 Some eye problems are minor and don't last long. But some can lead to a permanent loss of vision. Common eye problems include Refractive errors Cataracts - clouded lenses Optic nerve disorders, including glaucoma Retinal disorders - problems with the nerve layer at the back of the eye Macular degeneration - a disease that destroys sharp, central vision Diabetic eye problems Conjunctivitis - an infection also known as pinkeye Your best defense is to have regular checkups, because eye diseases do not always have symptoms. Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light. Other symptoms that need quick attention are pain, double vision, fluid coming from the eye, and inflammation. NIH: National Eye Institute

UniProtKB/Swiss-Prot : 75 Ewing sarcoma: A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors.

Wikipedia : 76 Ewing''s sarcoma or Ewing sarcoma (/�?juːɪ�?/) is a malignant small, round, blue cell tumor. It is a... more...

Related Diseases for Ewing Sarcoma

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

(show top 50) (show all 591)
# Related Disease Score Top Affiliating Genes
1 extraskeletal ewing sarcoma 34.6 CD99 ENO2 ERG EWSR1 FLI1 FUS
2 primitive neuroectodermal tumor of the cervix uteri 34.4 ENO2 PTPRC
3 intracranial primitive neuroectodermal tumor 34.3 CD99 ENO2
4 bone ewing's sarcoma 33.1 CD99 ENO2 EWSR1 PTPRC WT1
5 sarcoma 33.0 ERG ETV1 EWSR1 FLI1 FUS KIT
6 rhabdoid tumor predisposition syndrome 1 32.9 IGF1R PTPRC WT1
7 extraosseous ewing's sarcoma 32.9 CD99 ENO2 ETV4 EWSR1
8 askin's tumor 32.6 ENO2 EWSR1
9 ewing's family of tumors 31.9 EWSR1 FLI1 KIT
10 retinal disease 31.5 ABCC6 CNGB3 IMPG2 RDH12
11 rhabdomyosarcoma 31.2 ENO2 EWSR1 IGF1R PTPRC
12 kidney rhabdoid cancer 31.1 CD99 ENO2 EWSR1 PTPRC WT1
13 cauda equina neoplasm 30.9 ENO2 EWSR1 WT1
14 desmoplastic small round cell tumor 30.9 ENO2 EWSR1 WT1
15 histiocytoma 30.8 EWSR1 FUS KIT PTPRC
16 small cell carcinoma 30.8 ENO2 KIT NCAM1 PTPRC
17 rhabdomyosarcoma 2 30.8 ENO2 EWSR1 IGF1R WT1
18 rhabdoid cancer 30.8 ENO2 EWSR1 WT1
19 olfactory neuroblastoma 30.7 ENO2 EWSR1 PTPRC
20 leukemia, acute myeloid 30.7 KIT NCAM1 PTPRC WT1
21 clear cell sarcoma 30.6 ENO2 EWSR1 FUS KIT WT1
22 gastrointestinal stromal tumor 30.5 ENO2 ETV1 KIT NCAM1
23 heart sarcoma 30.5 ENO2 KIT WT1
24 myeloid sarcoma 30.5 KIT NCAM1 PTPRC
25 teratoma 30.5 CD99 ENO2 KIT
26 merkel cell carcinoma 30.5 ENO2 KIT NCAM1
27 small cell osteogenic sarcoma 30.5 ENO2 EWSR1
28 vulvar sarcoma 30.4 EWSR1 PTPRC
29 small cell cancer of the lung 30.1 ENO2 KIT NCAM1
30 cerebral primitive neuroectodermal tumor 12.6
31 fish-eye disease 12.5
32 aland island eye disease 12.5
33 bornholm eye disease 12.3
34 supratentorial primitive neuroectodermal tumors, childhood 12.3
35 primitive neuroectodermal tumor of the corpus uteri 12.3
36 extraosseous ewings sarcoma-primitive neuroepithelial tumor 12.3
37 soft tissue peripheral neuroepithelioma 12.2
38 bone peripheral neuroepithelioma 12.1
39 dissociative seizures 12.1
40 pancreatic neuroendocrine tumor 11.8
41 pineoblastoma 11.8
42 spinal cord primitive neuroectodermal neoplasm 11.7
43 cerebellopontine angle primitive neuroectodermal 11.7
44 ependymoblastoma 11.6
45 adult central nervous system primitive neuroectodermal neoplasm 11.3
46 childhood central nervous system primitive neuroectodermal neoplasm 11.3
47 continuous spike-wave during slow sleep syndrome 11.3
48 rhabdoid tumor predisposition syndrome 2 11.3
49 pineoblastoma, childhood 11.3
50 supratentorial primitive neuroectodermal tumor 11.2

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



Diseases related to Ewing Sarcoma

Symptoms & Phenotypes for Ewing Sarcoma

Clinical features from OMIM:

612219

Human phenotypes related to Ewing Sarcoma:

32
# Description HPO Frequency HPO Source Accession
1 ewing sarcoma 32 HP:0012254

UMLS symptoms related to Ewing Sarcoma:


fever, visual disturbance, eye manifestations, pathological conditions, signs and symptoms, redness or discharge of eye, pain in or around eye, lid retraction

GenomeRNAi Phenotypes related to Ewing Sarcoma according to GeneCards Suite gene sharing:

26 (show all 39)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.35 NCAM1
2 Decreased viability GR00106-A-0 10.35 PTPRC
3 Decreased viability GR00221-A-1 10.35 IGF1R KIT
4 Decreased viability GR00221-A-2 10.35 IGF1R
5 Decreased viability GR00221-A-3 10.35 IGF1R
6 Decreased viability GR00221-A-4 10.35 FUS
7 Decreased viability GR00301-A 10.35 IGF1R KIT
8 Decreased viability GR00342-S-2 10.35 IGF1R
9 Decreased viability GR00381-A-1 10.35 WT1
10 Decreased viability GR00402-S-2 10.35 ABCC6 CD99 CNGA3 CNGB3 ENO2 ERG
11 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.2 WT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.2 KIT
13 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.2 EWSR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.2 WT1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.2 EWSR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.2 EWSR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.2 EWSR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.2 EWSR1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.2 IMPG2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.2 EWSR1 IMPG2 KIT WT1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.2 KIT
22 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.2 EWSR1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.2 IMPG2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.2 KIT
25 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.2 IMPG2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.2 EWSR1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.2 WT1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.2 WT1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.2 KIT WT1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.2 WT1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.2 EWSR1 KIT
32 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.2 WT1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.2 WT1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.2 EWSR1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.2 EWSR1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.2 KIT WT1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.2 KIT
38 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.2 EWSR1 KIT
39 no effect GR00402-S-1 9.62 ABCC6 CD99 CNGA3 CNGB3 ENO2 ERG

MGI Mouse Phenotypes related to Ewing Sarcoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.9 CNGB3 ENO2 ERG ETV1 FLI1 IGF1R
2 neoplasm MP:0002006 9.5 ERG ETV4 FLI1 IGF1R KIT PTPRC
3 nervous system MP:0003631 9.4 CNGA3 CNGB3 ENO2 ERG ETV1 ETV4

Drugs & Therapeutics for Ewing Sarcoma

FDA approved drugs:

(show top 50) (show all 250)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Abraxane 18 49 PACLITAXEL Celgene October 2012
2
Abstral 18 FENTANYL (citrate) ProStrakan January 2011
3
Actiq 18 FENTANYL (citrate) Anesta Corporation November 1998
4
Adcetris 18 49 BRENTUXIMAB VEDOTIN Seattle Genetics August 2011
5
Afinitor 18 49 EVEROLIMUS Novartis March 2009
6
Akynzeo 18 49 NETUPITANT AND PALONOSETRON (hydrochloride) Helsinn October 2014
7
Alimta 18 49 PEMETREXED (also Pemetrexed Disodium) Eli Lilly February 2004
8
Aloxi 18 49 PALONOSETRON (hydrochloride) MGI Pharma, Helsinn Healthcare August 2003
9
Anexsia 18 ACETAMINOPHEN; HYDROCODONE BITARTRATE Mallinckrodt Group August 1996
10
Anzemet 18 DOLASETRON MESYLATE Hoechst Marion Roussel February 1998
11
Aredia 18 49 PAMIDRONATE DISODIUM Chiron August 1996
12
Arimidex 18 49 ANASTROZOLE AstraZeneca January 1996
13
Aromasin Tablets 18 49 EXEMESTANE Pharmacia & Upjohn October 21. 1999
14
Arranon 18 49 NELARABINE GlaxoSmithKline October 2005
15
Arzerra 18 49 OFATUMUMAB GlaxoSmithKline October 2009
16
Avastin 18 49 BEVACIZUMAB Genentech July 2009
17
Beleodaq 18 49 BELINOSTAT Spectrum Pharmaceuticals July 2014
18
Bexxar 18 49 TOSITUMOMAB; IODINE I 131 TOSITUMOMAB Corixa June 2003
19
Blincyto 18 49 BLINATUMOMAB Amgen December 2014
20
Bosulif 18 49 BOSUTINIB MONOHYDRATE Pfizer September 2012
21
Bromfenac 18 BROMFENAC SODIUM Duract, Wyeth-Ayerst Laboratories July 1997
22
Busulfex 18 49 BUSULFAN Orphan Medical February 1999
23
Campath 18 49 ALEMTUZUMAB Berlex Laboratories May 2001
24
Campostar 18 49 IRINOTECAN HYDROCHLORIDE Pharmacia & Upjohn June 1996
25
CEA-Scan 18 Immunomedics April 1996
26
Cervarix 18 49 Human Papillomavirus Bivalent (Types 16 and 18) Vaccine, Recombinant GlaxoSmithKline October 2009
27
Clolar 18 49 CLOFARABINE Genzyme December, 2004
28
Cometriq 18 49 CABOZANTINIB S-MALATE Exelixis November 2012
29
Cyramza 18 49 RAMUCIRUMAB Eli Lilly April 2014
30
Degarelix 18 49 degarelix Ferring Pharmaceuticals December of 2008
31
Doxil 18 49 DOXORUBICIN HYDROCHLORIDE Alza June 1999
32
Eligard 18 49 LEUPROLIDE ACETATE Atrix Laboratories January 2002
33
Elitek 18 49 RASBURICASE sanofi-aventis October 2009
34
Ellence 18 49 EPIRUBICIN HYDROCHLORIDE Pharmacia & Upjohn September 1999
35
Elliotts B Solution 18 CALCIUM CHLORIDE; DEXTROSE; MAGNESIUM SULFATE; POTASSIUM CHLORIDE; SODIUM BICARBONATE; SODIUM CHLORIDE; SODIUM PHOSPHATE, DIBASIC, HEPTAHYDRATE Orphan Medical October 1996
36
Eloxatin 18 49 OXALIPLATIN Sanofi-aventis August 2002
37
Emend 18 49 APREPITANT FOSAPREPITANT DIMEGLUMINE Merck March 2003
38
Erbitux 18 49 CETUXIMAB Imclone, Bristol-Myers Squibb February 2004
39
Erivedge 18 49 VISMODEGIB Genentech January 2012
40
Erwinaze 18 49 asparaginase Erwinia chrysanthemi Eusa Pharma November of 2011
41
Ethyol 18 AMIFOSTINE Alza December 8, 1995
42
Eulexin 18 FLUTAMIDE Schering-Plough June 1996
43
Evista 18 49 RALOXIFENE HYDROCHLORIDE Eli Lilly September 2007
44
Farydak 18 49 PANOBINOSTAT LACTATE Novartis February 2015
45
Faslodex 18 49 FULVESTRANT AstraZeneca April 2002
46
Femara 18 49 LETROZOLE Novartis January 2001
47
Feridex I.V. 18 FERUMOXIDES Advanced Magnetics February 1996
48
Folotyn 18 49 PRALATREXATE Allos Therapeutics September 2009
49
Fusilev 18 LEVOLEUCOVORIN CALCIUM Spectrum Pharmaceuticals March of 2008
50
Gardasil 18 49 quadrivalent human papillomavirus (types 6, 11, 16, 18) recombinant vaccine Merck June 2006

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

(show top 50) (show all 276)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 6055-19-2, 50-18-0 2907
2
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 57-22-7, 2068-78-2 5978
3
Dactinomycin Approved, Investigational Phase 3,Phase 2,Not Applicable 50-76-0 457193 2019
4
Cobalt Approved, Experimental Phase 3,Phase 2 7440-48-4 104729
5
Mesna Approved, Investigational Phase 3,Phase 1,Phase 2 3375-50-6 598
6
Ifosfamide Approved Phase 3,Phase 2,Phase 1,Not Applicable 3778-73-2 3690
7
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 23214-92-8 31703
8
Etoposide Approved Phase 3,Phase 1,Phase 2,Not Applicable 33419-42-0 36462
9
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 55-98-1 2478
10
Melphalan Approved Phase 3,Phase 2,Phase 1,Not Applicable 148-82-3 4053 460612
11
Mechlorethamine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 51-75-2 4033
12
Irinotecan Approved, Investigational Phase 3,Phase 2,Phase 1 100286-90-6, 97682-44-5 60838
13
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
14
Carboplatin Approved Phase 3,Phase 1,Phase 2,Not Applicable 41575-94-4 10339178 38904 498142
15
Zoledronic acid Approved Phase 3,Phase 1 118072-93-8 68740
16 Grape Approved Phase 3
17 Cranberry Approved, Investigational Phase 3
18
Dacarbazine Approved, Investigational Phase 3,Phase 2,Phase 1 4342-03-4 5351166
19
Armodafinil Approved, Investigational Phase 3,Phase 2,Phase 1 112111-43-0
20
Temozolomide Approved, Investigational Phase 3,Phase 2,Phase 1 85622-93-1 5394
21
Modafinil Approved, Investigational Phase 3,Phase 2,Phase 1 68693-11-8 4236
22
Topotecan Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 123948-87-8, 119413-54-6 60700
23
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
24
Cyproheptadine Approved Phase 3 129-03-3 2913
25
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
26
Epirubicin Approved Phase 3,Phase 2 56420-45-2 41867
27
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1,Not Applicable 31703
28
Camptothecin Experimental Phase 3,Phase 2,Phase 1 7689-03-4
29
Treosulfan Investigational Phase 3 299-75-2 9296
30 Deslorelin Investigational, Vet_approved Phase 2, Phase 3 57773-65-6
31 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
32
Isophosphamide mustard Phase 3,Phase 2,Phase 1,Not Applicable 0
33 Immunosuppressive Agents Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
34 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
35 Immunologic Factors Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
36 Antineoplastic Agents, Alkylating Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
37 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
38 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Not Applicable
39 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
40 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
41 Etoposide phosphate Phase 3,Phase 1,Phase 2,Not Applicable
42 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
43 Antirheumatic Agents Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
44 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1,Not Applicable
45 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 1,Phase 2,Not Applicable
46 topoisomerase I inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
47 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1,Not Applicable
48 Protective Agents Phase 3,Phase 2,Phase 1,Not Applicable
49 Antineoplastic Agents, Hormonal Phase 2, Phase 3,Phase 1
50 Gastrointestinal Agents Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 269)
# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy Plus Surgery and Radiation Therapy in Treating Patients With Ewing's Sarcoma Unknown status NCT00002516 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;mesna;vincristine sulfate
2 Combination Chemotherapy With or Without Peripheral Stem Cell Transplantation, Radiation Therapy, and/or Surgery in Treating Patients With Ewing's Sarcoma Unknown status NCT00020566 Phase 3 busulfan;doxorubicin hydrochloride;etoposide;ifosfamide;melphalan;vincristine sulfate
3 Efficacy of Dose Intensification in Patients With Non-metastatic Ewing Sarcoma Recruiting NCT02063022 Phase 3 Standard treatment (as per protocol ISG SSG III);Intensified chemotherapy
4 Study in Localized and Disseminated Ewing Sarcoma Recruiting NCT00987636 Phase 3 Zoledronic acid;Busulfan;Treosulfan
5 Post-operative Radiotherapy in Poor Responders Ewing's Sarcoma Patients Withdrawn NCT01734863 Phase 3
6 Vigil + Irinotecan and Temozolomide in Ewing's Sarcoma Recruiting NCT03495921 Phase 3 Irinotecan;Temozolomide
7 Comparison of Combination Chemotherapy Regimens in Treating Patients With Ewing's Sarcoma or Neuroectodermal Tumor Completed NCT00006734 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
8 Combination Chemotherapy With or Without Topotecan in Treating Patients With Newly Diagnosed Localized Ewing's Sarcoma Withdrawn NCT00334867 Phase 3 cyclophosphamide;dexrazoxane hydrochloride;doxorubicin hydrochloride;etoposide;ifosfamide;topotecan hydrochloride;vincristine sulfate
9 Combination Chemotherapy in Treating Patients With Non-Metastatic Extracranial Ewing Sarcoma Active, not recruiting NCT01231906 Phase 3 Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Ifosfamide;Topotecan Hydrochloride;Vincristine Sulfate
10 Combination Chemotherapy With or Without Ganitumab in Treating Patients With Newly Diagnosed Metastatic Ewing Sarcoma Recruiting NCT02306161 Phase 3 Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Ifosfamide;Vincristine Sulfate
11 Co-treatment With GnRH Analogs on the Ovarian Reserve in Young Women Treated With Alkylating Agents for Cancer Active, not recruiting NCT02856048 Phase 2, Phase 3 Triptorelin (GnRHa) + Chemotherapy
12 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
13 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
14 Music Therapy or Book Discussion in Improving Quality of Life in Young Patients Undergoing Stem Cell Transplant Completed NCT00305851 Phase 3
15 Surgery Followed by Chemotherapy in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
16 Hematopoietic Stem Cell Transplantation From Human Leukocyte Antigen (HLA) Compatible Donor in Ewing Sarcomas and Soft Tissues Sarcomas Unknown status NCT00998361 Phase 2
17 Pilot Study of Expanded , Activated Haploidentical Natural Killer Cell Infusions for Sarcomas Unknown status NCT02409576 Phase 1, Phase 2
18 Study of Vinorelbine and Cyclofosfamide Among Patients With Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
19 Tandem Peripheral Blood Stem Cell (PBSC) Rescue for High Risk Solid Tumors Unknown status NCT00179816 Phase 1, Phase 2 High-Dose Chemotherapy with Tandem PBSC Rescue.
20 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
21 A Two-part Phase IIb Trial of Vigil in Ewing's Sarcoma Active, not recruiting NCT02511132 Phase 2 Temozolomide;Irinotecan
22 Irinotecan and Temozolomide for Ewing Sarcoma Recruiting NCT03359005 Phase 2 Irinotecan;Temozolomide
23 Study of Intensive Chemotherapy, Surgery and Radiotherapy to Treat Ewing's Sarcoma in Children and Young Adults Completed NCT01696669 Phase 2 Chemotherapy
24 SM-88 as Maintenance Therapy for Advanced Ewing's Sarcoma Patients and as Salvage Therapy for Sarcoma Patients Not yet recruiting NCT03778996 Phase 2 Combination metyrosine-derivative, low-dose sirolimus, phenytoin and methoxsalen
25 Anlotinib and Irinotecan for Ewing Sarcoma Recruiting NCT03416517 Phase 2 Anlotinib Hydrochloride;Irinotecan
26 Mithramycin for Children and Adults With Solid Tumors or Ewing Sarcoma Terminated NCT01610570 Phase 1, Phase 2 Mithramycin
27 Protocol for the Treatment of Metastatic Ewing Sarcoma Recruiting NCT02727387 Phase 2 TEMIRI;ADM;IFO;CYC;ETO;BUMEL;VIN
28 Olaparib in Adults With Recurrent/Metastatic Ewing's Sarcoma Completed NCT01583543 Phase 2 Olaparib
29 Eurosarc Trial of Linsitinib in Advanced Ewing Sarcoma Completed NCT02546544 Phase 2 Linsitinib
30 Irinotecan and Temozolomide in Combination With Existing High Dose Alkylator Based Chemotherapy for Treatment of Patients With Newly Diagnosed Ewing Sarcoma Recruiting NCT01864109 Phase 2 Cyclophosphamide;Vincristine;Ifosfamide;Etoposide;Temozolomide;Irinotecan;Mesna;Dexrazoxane;G-CSF
31 Study Of CP-751,871 In Patients With Ewing's Sarcoma Family Of Tumors Completed NCT00560235 Phase 1, Phase 2 CP-751,871
32 Study to Assess Safety and Preliminary Activity of Eribulin Mesylate in Pediatric Subjects With Relapsed/Refractory Rhabdomyosarcoma (RMS), Non-rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS) and Ewing Sarcoma (EWS) Recruiting NCT03441360 Phase 2 Eribulin mesylate
33 Vincristine, Doxorubicin, Cyclophosphamide and Dexrazoxane (VACdxr) in High Risk Ewing's Sarcoma Patients Terminated NCT00038142 Phase 2 Vincristine;Doxorubicin;Cyclophosphamide;Dexrazoxane
34 Cabozantinib-s-malate in Treating Patients With Relapsed Osteosarcoma or Ewing Sarcoma Recruiting NCT02243605 Phase 2 Cabozantinib S-malate
35 Cyclophosphamide, Doxorubicin, Vincristine w/ Irinotecan and Temozolomide in Ewings Sarcoma Terminated NCT01313884 Phase 2 Irinotecan;Vincristine;Temozolomide;Doxorubicin;Cytoxan;Pegfilgrastim
36 Therapeutic Trial for Patients With Ewing Sarcoma Family of Tumor and Desmoplastic Small Round Cell Tumors Active, not recruiting NCT01946529 Phase 2 vincristine;doxorubicin;cyclophosphamide;ifosfamide;etoposide;temozolomide;temsirolimus;bevacizumab;sorafenib
37 Stereotactic Body Radiotherapy (SBRT) for Pulmonary Metastases in Ewing Sarcoma, Rhabdomyosarcoma, and Wilms Tumors Recruiting NCT02581384 Phase 1, Phase 2
38 Vinblastine, Celecoxib, and Combination Chemotherapy in Treating Patients With Newly-Diagnosed Metastatic Ewing's Sarcoma Family of Tumors Completed NCT00061893 Phase 2 celecoxib;cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;vinblastine sulfate;vincristine sulfate;MESNA;Filgrastim
39 Study on VCD/IE in the Patients With Ewing's Sarcoma Family of Tumors (ESFT) Terminated NCT00568464 Phase 2 VCR, CTX, ADM; IFO, VP-16
40 First-line Treatment of Ewing Tumours With Primary Extrapulmonary Dissemination in Patients From 2 to 50 Years Recruiting NCT03011528 Phase 2 VDC-IE x2;VDC-IE;TEMIRI;Consolidation BuMel;Maintenance
41 Aerosol L9-NC and Temozolomide in Ewing's Sarcoma Completed NCT00492141 Phase 1, Phase 2 Temozolomide;L9-NC
42 Cytarabine in Treating Young Patients With Recurrent or Refractory Ewing's Sarcoma Completed NCT00470275 Phase 2 cytarabine
43 Irinotecan in Treating Patients With Newly Diagnosed Ewing's Sarcoma Completed NCT00276692 Phase 2 irinotecan hydrochloride
44 Trial of Nab-paclitaxel in Patients With Desmoid Tumors and Multiply Relapsed/Refractory Desmoplastic Small Round Cell Tumors and Ewing Sarcoma Recruiting NCT03275818 Phase 2 nab paclitaxel
45 Vincristine Sulfate, Topotecan Hydrochloride, and Cyclophosphamide With or Without Bevacizumab in Treating Young Patients With Refractory or First Recurrent Extracranial Ewing Sarcoma Completed NCT00516295 Phase 2 topotecan hydrochloride;vincristine sulfate;cyclophosphamide
46 Chemotherapy in Treating Patients With Metastatic Ewing's Sarcoma or Primitive Neuroectodermal Tumor Terminated NCT00014313 Phase 2 cisplatin;etoposide
47 A Study to Determine the Activity of Robatumumab (SCH 717454) in Participants With Relapsed Osteosarcoma or Ewing's Sarcoma (MK-7454-002/P04720) Terminated NCT00617890 Phase 2
48 New Therapeutic Strategies for Patients With Ewing's Sarcoma Family of Tumors, High Risk Rhabdomyosarcoma, and Neuroblastoma Completed NCT00001335 Phase 2 ADR-529;Topotecan;G-CSF
49 Combination Chemotherapy and Biological Therapy in Treating Patients With High-Risk Ewing's Sarcoma Completed NCT00003667 Phase 2 cyclophosphamide;dexrazoxane hydrochloride;disaccharide tripeptide glycerol dipalmitoyl;doxorubicin hydrochloride;vincristine sulfate
50 Cyclophosphamide, Topotecan, and Bevacizumab (CTB) in Patients With Relapsed/Refractory Ewing's Sarcoma and Neuroblastoma Completed NCT01492673 Phase 2 Cyclophosphamide, Topotecan, and Bevacizumab

Search NIH Clinical Center for Ewing Sarcoma

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: eye diseases

Genetic Tests for Ewing Sarcoma

Genetic tests related to Ewing Sarcoma:

# Genetic test Affiliating Genes
1 Ewing's Sarcoma 29 EWSR1
2 Abnormality of the Eye 29

Anatomical Context for Ewing Sarcoma

MalaCards organs/tissues related to Ewing Sarcoma:

41
Bone, Eye, Lung, Bone Marrow, Brain, T Cells, Kidney

Publications for Ewing Sarcoma

Articles related to Ewing Sarcoma:

(show top 50) (show all 1175)
# Title Authors Year
1
Early recognition and diagnosis of Ewing sarcoma of the cervical spine. ( 30416636 )
2019
2
Clinicopathologic Features of Non-CNS Primary Ewing Sarcoma Family of Tumors in the Head and Neck Region. Don't Forget the CIC- and BCOR-rearranged Sarcomas. ( 28777154 )
2019
3
EWS-FLI1 regulates a transcriptional program in cooperation with Foxq1 in mouse Ewing sarcoma. ( 29945296 )
2018
4
Robust diagnosis of Ewing sarcoma by immunohistochemical detection of super-enhancer-driven EWSR1-ETS targets. ( 29416716 )
2018
5
Planning for Bone Excision in Ewing Sarcoma: Post-Chemotherapy MRI More Accurate Than Pre-Chemotherapy MRI Assessment. ( 29298256 )
2018
6
MicroRNA-638 inhibits cell growth and tubule formation by suppressing VEGFA expression in human Ewing sarcoma cells. ( 29263143 )
2018
7
Chemokine Expression Is Involved in the Vascular Neogenesis of Ewing Sarcoma: A Preliminary Analysis of the Early Stages of Angiogenesis in a Xenograft Model. ( 29895220 )
2018
8
Targeting Histone Deacetylase Activity to Arrest Cell Growth and Promote Neural Differentiation in Ewing Sarcoma. ( 29397557 )
2018
9
Sinusoidal obstruction syndrome/veno-occlusive disease after high-dose intravenous busulfan/melphalan conditioning therapy in high-risk Ewing Sarcoma. ( 29335623 )
2018
10
EWS/FLI Confers Tumor Cell Synthetic Lethality to CDK12 Inhibition in Ewing Sarcoma. ( 29358035 )
2018
11
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor in the Adrenal Gland of a Child. ( 29891750 )
2018
12
SN-38 Conjugated Gold Nanoparticles Activated by Ewing Sarcoma Specific mRNAs Exhibit In Vitro and In Vivo Efficacy. ( 29412642 )
2018
13
PAX7 Immunohistochemical Evaluation of Ewing Sarcoma and Other Small Round Cell Tumors. ( 29920735 )
2018
14
Author Correction: EWS-FLI1 increases transcription to cause R-loops and block BRCA1 repair in Ewing sarcoma. ( 29950716 )
2018
15
Beclin-1 knockdown decreases proliferation, invasion and migration of Ewing sarcoma SK-ES-1 cells via inhibition of MMP-9. ( 29435061 )
2018
16
Esophagitis associated with multimodality management of pediatric Ewing sarcoma of thorax. ( 29431250 )
2018
17
Age dependency of primary tumor sites and metastases in patients with Ewing sarcoma. ( 29856530 )
2018
18
Extra-Osseous Ewing Sarcoma of Sciatic Nerve Masquerading as Benign Nerve Sheath Tumor and Presented as Lumbar Radiculopathy: Case Report and Review of Literature. ( 29673820 )
2018
19
Usefulness of NKX2.2 Immunohistochemistry for Distinguishing Ewing Sarcoma from Other Sinonasal Small Round Blue Cell Tumors. ( 28616785 )
2018
20
Detection of circulating tumor cells in liquid biopsy from Ewing sarcoma patients. ( 29386915 )
2018
21
Tumor suppressive ZBTB4 inhibits cell growth by regulating cell cycle progression and apoptosis in Ewing sarcoma. ( 29425745 )
2018
22
Successful Spontaneous Pregnancy after Treatment for Ewing Sarcoma including Sacrectomy. ( 29854509 )
2018
23
Gene expression changes associated with chemotherapy resistance in Ewing sarcoma cells. ( 29844902 )
2018
24
Clofarabine inhibits Ewing sarcoma growth through a novel molecular mechanism involving direct binding to CD99. ( 29382926 )
2018
25
Radiotherapy Outcome for Pediatric Pelvic Ewing Sarcoma. ( 29848420 )
2018
26
Combined analysis of gene expression and genome binding profiles identified potential therapeutic targets of ciclopirox in Ewing sarcoma. ( 29328472 )
2018
27
Ewing sarcoma. ( 29977059 )
2018
28
Intracranial Ewing sarcoma: four pediatric examples. ( 29285586 )
2018
29
Ewing sarcoma. ( 29976985 )
2018
30
Preclinical Testing of an Oncolytic Parvovirus in Ewing Sarcoma: Protoparvovirus H-1 Induces Apoptosis and Lytic Infection In Vitro but Fails to Improve Survival In Vivo. ( 29865280 )
2018
31
MiR-107 suppresses cell proliferation and tube formation of Ewing sarcoma cells partly by targeting HIF-1I^. ( 29075999 )
2018
32
Eight-year follow-up after scapulectomy in a neonate with congenital Ewing sarcoma of the scapula. ( 29934281 )
2018
33
Unusual Radiographic Presentation of Primary Ewing Sarcoma of the Orbit. ( 29937126 )
2018
34
Ewing Sarcoma and the History of Similar and Possibly Related Small Round Cell Tumors: From Whence Have We Come and Where are We Going? ( 29911999 )
2018
35
Metachronous renal Ewing sarcoma/primitive neuroectodermal tumour in a survivor of Burkitt lymphoma. ( 29895547 )
2018
36
EWS-FLI1 reprograms the metabolism of Ewing sarcoma cells via positive regulation of glutamine import and serine-glycine biosynthesis. ( 29873416 )
2018
37
Prognostic value and functional role of ROCK2 in pediatric Ewing sarcoma. ( 29434937 )
2018
38
Unusual Neuroendocrine Differentiation in a Small Round Cell Angiosarcoma: A Potential Histologic Mimicker of Superficial Ewing Sarcoma. ( 29533277 )
2018
39
An Uncommon Presentation of a Primary Bone Tumor: Anti-AMPA (Anti-α-Amino-3-Hydroxy-5-Methyl-4-Isoxazolepropionic acid) Receptor Limbic/Paraneoplastic Encephalitis as a Presenting Feature of Ewing Sarcoma. ( 30247289 )
2018
40
The Ewing Sarcoma Secretome and Its Response to Activation of Wnt/beta-catenin Signaling. ( 29386236 )
2018
41
Recurrence of Ewing sarcoma: Is detection by imaging follow-up protocol associated with survival advantage? ( 29480574 )
2018
42
Acute lymphoblastic leukemia arising after treatment of Ewing sarcoma was misdiagnosed as bone marrow metastasis of Ewing sarcoma: A case report. ( 29505001 )
2018
43
EWS-FLI1 increases transcription to cause R-loops and block BRCA1 repair in Ewing sarcoma. ( 29513652 )
2018
44
Irinotecan and temozolomide in recurrent Ewing sarcoma: an analysis in 51 adult and pediatric patients. ( 29533113 )
2018
45
In Vitro and In Vivo Characterization of a Preclinical Irradiation-Adapted Model for Ewing Sarcoma. ( 29534895 )
2018
46
Comparison of the effects of local treatment strategies in non-metastatic Ewing sarcoma of bone. ( 29537323 )
2018
47
Epidermal Growth Factor Receptor Regulation of Ewing Sarcoma Cell Function. ( 29539615 )
2018
48
Ewing sarcoma of the adrenal gland: a case report and review of the literature. ( 29544549 )
2018
49
Primary Ewing sarcoma of the axis-C2: A case report and the review of the literature. ( 29544873 )
2018
50
Ewing Sarcoma of the Chest Wall: Prognostic Factors of Multimodal Therapy Including En Bloc Resection. ( 29551629 )
2018

Variations for Ewing Sarcoma

ClinVar genetic disease variations for Ewing Sarcoma:

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh37 Chromosome 14, 68196055: 68196059
2 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh38 Chromosome 14, 67729338: 67729342
3 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh37 Chromosome 8, 87656009: 87656009
4 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh38 Chromosome 8, 86643781: 86643781
5 ABCC6 NM_001171.5(ABCC6): c.3389C> T (p.Thr1130Met) single nucleotide variant Pathogenic/Likely pathogenic rs63750459 GRCh37 Chromosome 16, 16256967: 16256967
6 ABCC6 NM_001171.5(ABCC6): c.3389C> T (p.Thr1130Met) single nucleotide variant Pathogenic/Likely pathogenic rs63750459 GRCh38 Chromosome 16, 16163110: 16163110
7 VPS13B NM_017890.4(VPS13B): c.2591C> A (p.Ser864Ter) single nucleotide variant Pathogenic rs140936527 GRCh37 Chromosome 8, 100286501: 100286501
8 VPS13B NM_017890.4(VPS13B): c.2591C> A (p.Ser864Ter) single nucleotide variant Pathogenic rs140936527 GRCh38 Chromosome 8, 99274273: 99274273
9 VPS13B NM_017890.4(VPS13B): c.3628G> T (p.Asp1210Tyr) single nucleotide variant Uncertain significance rs145417421 GRCh37 Chromosome 8, 100479824: 100479824
10 VPS13B NM_017890.4(VPS13B): c.3628G> T (p.Asp1210Tyr) single nucleotide variant Uncertain significance rs145417421 GRCh38 Chromosome 8, 99467596: 99467596
11 CNGB3 NM_019098.4(CNGB3): c.1208G> A (p.Arg403Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147876778 GRCh37 Chromosome 8, 87645092: 87645092
12 CNGB3 NM_019098.4(CNGB3): c.1208G> A (p.Arg403Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147876778 GRCh38 Chromosome 8, 86632864: 86632864
13 CACNA2D4 NM_172364.4(CACNA2D4): c.1882C> T (p.Arg628Ter) single nucleotide variant Uncertain significance rs200098356 GRCh37 Chromosome 12, 1969369: 1969369
14 CACNA2D4 NM_172364.4(CACNA2D4): c.1882C> T (p.Arg628Ter) single nucleotide variant Uncertain significance rs200098356 GRCh38 Chromosome 12, 1860203: 1860203
15 VPS13B NM_017890.4(VPS13B): c.6370_6371delAT (p.Met2124Valfs) deletion Conflicting interpretations of pathogenicity rs748404277 GRCh37 Chromosome 8, 100712001: 100712002
16 VPS13B NM_017890.4(VPS13B): c.6370_6371delAT (p.Met2124Valfs) deletion Conflicting interpretations of pathogenicity rs748404277 GRCh38 Chromosome 8, 99699773: 99699774
17 CNGA3 NM_001298.2(CNGA3): c.1688G> A (p.Arg563His) single nucleotide variant Pathogenic rs552069173 GRCh37 Chromosome 2, 99013321: 99013321
18 CNGA3 NM_001298.2(CNGA3): c.1688G> A (p.Arg563His) single nucleotide variant Pathogenic rs552069173 GRCh38 Chromosome 2, 98396858: 98396858
19 CNGB3 NM_019098.4(CNGB3): c.1285delT (p.Ser429Leufs) deletion Pathogenic/Likely pathogenic rs776896038 GRCh37 Chromosome 8, 87645015: 87645015
20 CNGB3 NM_019098.4(CNGB3): c.1285delT (p.Ser429Leufs) deletion Pathogenic/Likely pathogenic rs776896038 GRCh38 Chromosome 8, 86632787: 86632787
21 ABCC6 NM_001171.5(ABCC6): c.4104delC (p.Asp1368Glufs) deletion Pathogenic rs72664237 GRCh38 Chromosome 16, 16154732: 16154732
22 ABCC6 NM_001171.5(ABCC6): c.4104delC (p.Asp1368Glufs) deletion Pathogenic rs72664237 GRCh37 Chromosome 16, 16248589: 16248589
23 GNAT2 NM_005272.3(GNAT2): c.906C> A (p.Tyr302Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 110146135: 110146135
24 GNAT2 NM_005272.3(GNAT2): c.906C> A (p.Tyr302Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 109603513: 109603513
25 CNGA3 NM_001298.2(CNGA3): c.107_110delACTC (p.His36Argfs) deletion Likely pathogenic rs749036398 GRCh37 Chromosome 2, 98994155: 98994158
26 CNGA3 NM_001298.2(CNGA3): c.107_110delACTC (p.His36Argfs) deletion Likely pathogenic rs749036398 GRCh38 Chromosome 2, 98377692: 98377695
27 IMPG2 NM_016247.3(IMPG2): c.1680T> A (p.Tyr560Ter) single nucleotide variant Pathogenic rs758291149 GRCh37 Chromosome 3, 100963495: 100963495
28 IMPG2 NM_016247.3(IMPG2): c.1680T> A (p.Tyr560Ter) single nucleotide variant Pathogenic rs758291149 GRCh38 Chromosome 3, 101244651: 101244651
29 CNGB3 NM_019098.4(CNGB3): c.1810C> T (p.Arg604Ter) single nucleotide variant Likely pathogenic rs200805087 GRCh38 Chromosome 8, 86579224: 86579224
30 CNGB3 NM_019098.4(CNGB3): c.1810C> T (p.Arg604Ter) single nucleotide variant Likely pathogenic rs200805087 GRCh37 Chromosome 8, 87591452: 87591452
31 RBP4 NM_006744.3(RBP4): c.248+1G> A single nucleotide variant Likely pathogenic rs111785373 GRCh38 Chromosome 10, 93600666: 93600666
32 RBP4 NM_006744.3(RBP4): c.248+1G> A single nucleotide variant Likely pathogenic rs111785373 GRCh37 Chromosome 10, 95360423: 95360423
33 TYR NM_000372.4(TYR): c.1037G> T (p.Gly346Val) single nucleotide variant Likely pathogenic rs773970123 GRCh38 Chromosome 11, 89227823: 89227823
34 TYR NM_000372.4(TYR): c.1037G> T (p.Gly346Val) single nucleotide variant Likely pathogenic rs773970123 GRCh37 Chromosome 11, 88960991: 88960991
35 RPGRIP1 NM_020366.3(RPGRIP1): c.2398G> A (p.Glu800Lys) single nucleotide variant Likely pathogenic rs565837539 GRCh37 Chromosome 14, 21794020: 21794020
36 RPGRIP1 NM_020366.3(RPGRIP1): c.2398G> A (p.Glu800Lys) single nucleotide variant Likely pathogenic rs565837539 GRCh38 Chromosome 14, 21325861: 21325861
37 NR2E3 NM_016346.3(NR2E3): c.305C> A (p.Ala102Asp) single nucleotide variant Likely pathogenic rs772881093 GRCh38 Chromosome 15, 71811825: 71811825
38 NR2E3 NM_016346.3(NR2E3): c.305C> A (p.Ala102Asp) single nucleotide variant Likely pathogenic rs772881093 GRCh37 Chromosome 15, 72104165: 72104165
39 NYX NM_022567.2(NYX): c.936C> G (p.Asn312Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 41474389: 41474389
40 NYX NM_022567.2(NYX): c.936C> G (p.Asn312Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 41333642: 41333642
41 RP2 NM_006915.2(RP2): c.43delT (p.Ser15Argfs) deletion Likely pathogenic GRCh37 Chromosome X, 46696578: 46696578
42 RP2 NM_006915.2(RP2): c.43delT (p.Ser15Argfs) deletion Likely pathogenic GRCh38 Chromosome X, 46837143: 46837143
43 CACNA1F NM_005183.3(CACNA1F): c.3628C> T (p.Gln1210Ter) single nucleotide variant Likely pathogenic rs782362725 GRCh37 Chromosome X, 49071548: 49071548
44 CACNA1F NM_005183.3(CACNA1F): c.3628C> T (p.Gln1210Ter) single nucleotide variant Likely pathogenic rs782362725 GRCh38 Chromosome X, 49215088: 49215088
45 CHM NM_000390.3(CHM): c.315-1536A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 85220593: 85220593
46 CHM NM_000390.3(CHM): c.315-1536A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 85965588: 85965588
47 AHI1 NC_000006.11: g.135759007_135762232del3226 deletion Likely pathogenic GRCh37 Chromosome 6, 135759007: 135762232
48 TRPM6 NC_000009.11: g.77388717_77398576del9860 deletion Likely pathogenic GRCh37 Chromosome 9, 77388717: 77398576
49 subset of 27 genes:PRRT2 GRCh37/hg19 16p11.2(chr16: 29656684-30197341) copy number gain Likely pathogenic GRCh37 Chromosome 16, 29656684: 30197341
50 AIFM3; CRKL; LZTR1; P2RX6; PI4KA; SERPIND1; SLC7A4; SNAP29; THAP7 GRCh37/hg19 22q11.21(chr22: 21081260-21431174) copy number gain Uncertain significance GRCh37 Chromosome 22, 21081260: 21431174

Cosmic variations for Ewing Sarcoma:

9 (show all 46)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM1732355 H3F3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 37
2 COSM3908208 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 37
3 COSM3908209 soft tissue,bone,sarcoma,NS c.355C>T p.R119* 9:77815650-77815650 37
4 COSM43687 TP53 soft tissue,leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 33
5 COSM11333 TP53 soft tissue,leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 33
6 COSM6979022 SRC soft tissue,lung,sarcoma,NS c.205T>G p.S69A 20:37384358-37384358 33
7 COSM4774989 SH2B3 soft tissue,leg,sarcoma,NS c.232G>A p.E78K 12:111418377-111418377 33
8 COSM389868 RAC1 soft tissue,lung,sarcoma,NS c.476C>T p.A159V 7:6402343-6402343 33
9 COSM6979014 PTPRD soft tissue,lung,sarcoma,NS c.4160C>T p.A1387V 9:8404587-8404587 33
10 COSM6959031 PTCH1 soft tissue,lung,sarcoma,NS c.2921T>G p.F974C 9:95458260-95458260 33
11 COSM6979006 PBRM1 soft tissue,lung,sarcoma,NS c.2834G>A p.R945H 3:52589201-52589201 33
12 COSM6979021 PAK5 soft tissue,lung,sarcoma,NS c.41C>A p.P14Q 20:9644288-9644288 33
13 COSM6954536 NUP93 soft tissue,leg,sarcoma,NS c.116C>T p.A39V 16:56748363-56748363 33
14 COSM520 KRAS soft tissue,lung,sarcoma,NS c.35G>T p.G12V 12:25245350-25245350 33
15 COSM516 KRAS soft tissue,lung,sarcoma,NS c.34G>T p.G12C 12:25245351-25245351 33
16 COSM6979011 HGF soft tissue,lung,sarcoma,NS c.1711G>T p.V571L 7:81706333-81706333 33
17 COSM6959034 GPS2 soft tissue,lung,sarcoma,NS c.454C>T p.Q152* 17:7313932-7313932 33
18 COSM6979008 FOXP1 soft tissue,lung,sarcoma,NS c.74A>G p.H25R 3:71198308-71198308 33
19 COSM2923082 ANKRD11 soft tissue,leg,sarcoma,NS c.2882G>T p.R961L 16:89283660-89283660 33
20 COSM121083 soft tissue,leg,sarcoma,NS c.220C>T p.Q74* 17:7675113-7675113 33
21 COSM6959030 soft tissue,lung,sarcoma,NS c.2921T>G p.F974C 9:95458260-95458260 33
22 COSM1640840 soft tissue,leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 33
23 COSM6979007 soft tissue,lung,sarcoma,NS c.2834G>A p.R945H 3:52589201-52589201 33
24 COSM307279 soft tissue,leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 33
25 COSM6979005 soft tissue,lung,sarcoma,NS c.2738G>A p.R913H 3:52589201-52589201 33
26 COSM2744872 soft tissue,leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 33
27 COSM6979015 soft tissue,lung,sarcoma,NS c.2939C>T p.A980V 9:8404587-8404587 33
28 COSM6979012 soft tissue,lung,sarcoma,NS c.4160C>T p.A1387V 9:8404587-8404587 33
29 COSM6979020 soft tissue,lung,sarcoma,NS c.1831+1G>T p.? 19:45353082-45353082 33
30 COSM1140136 soft tissue,lung,sarcoma,NS c.34G>T p.G12C 12:25245351-25245351 33
31 COSM6979017 soft tissue,lung,sarcoma,NS c.2573C>T p.A858V 9:8404587-8404587 33
32 COSM6979010 soft tissue,lung,sarcoma,NS c.1036G>T p.V346L 3:179203766-179203766 33
33 COSM6979009 soft tissue,lung,sarcoma,NS c.74A>G p.H25R 3:71198308-71198308 33
34 COSM3937613 soft tissue,leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 33
35 COSM1154840 soft tissue,lung,sarcoma,NS c.533C>T p.A178V 7:6402343-6402343 33
36 COSM307282 soft tissue,leg,sarcoma,NS c.362A>G p.H121R 17:7674890-7674890 33
37 COSM6959033 soft tissue,lung,sarcoma,NS c.2918T>G p.F973C 9:95458260-95458260 33
38 COSM121082 soft tissue,leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 33
39 COSM121084 soft tissue,leg,sarcoma,NS c.103C>T p.Q35* 17:7675113-7675113 33
40 COSM3388198 soft tissue,leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 33
41 COSM6979016 soft tissue,lung,sarcoma,NS c.2930C>T p.A977V 9:8404587-8404587 33
42 COSM121081 soft tissue,leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 33
43 COSM6979013 soft tissue,lung,sarcoma,NS c.2942C>T p.A981V 9:8404587-8404587 33
44 COSM307280 soft tissue,leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 33
45 COSM6959032 soft tissue,lung,sarcoma,NS c.2918T>G p.F973C 9:95458260-95458260 33
46 COSM307281 soft tissue,leg,sarcoma,NS c.245A>G p.H82R 17:7674890-7674890 33

Copy number variations for Ewing Sarcoma from CNVD:

7 (show top 50) (show all 157)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13324 1 1 124300000 Deletion Ewing''s sarcoma
2 13741 1 1 27800000 Deletion Ewing''s sarcoma
3 16432 1 124300000 247249719 Gain Ewing''s sarcoma
4 16433 1 124300000 247249719 Gain Ewing''s sarcoma
5 16640 1 1286916 1536363 Loss Ewing''s sarcoma
6 17338 1 142400000 247249719 Gain Ewing''s sarcoma
7 17361 1 142565191 158296814 Gain AG1 Ewing''s sarcoma
8 20077 1 15300000 154800000 Gain Ewing''s sarcoma
9 20877 1 154978607 154979115 Gain HDGF Ewing''s sarcoma
10 21389 1 158408551 189951958 Gain FREB Ewing''s sarcoma
11 27410 1 208096981 208097464 Gain C1orf107 Ewing''s sarcoma
12 27922 1 215848737 215849264 Copy number GPATCH2 Ewing''s sarcoma
13 28256 1 220611046 220683633 Loss FBXO28 Ewing''s sarcoma
14 28623 1 224110806 224111244 Gain TMEM63A Ewing''s sarcoma
15 29204 1 228895774 228896323 Gain COG2 Ewing''s sarcoma
16 29247 1 229426179 229426672 Copy number C1orf131 Ewing''s sarcoma
17 29294 1 2300000 27800000 Deletion Ewing''s sarcoma
18 29735 1 234815741 234816376 Gain HEATR1 Ewing''s sarcoma
19 31804 1 3118000 5001000 Deletion Ewing''s sarcoma
20 31805 1 3118000 5001000 Deletion Ewing''s sarcoma
21 34220 1 53642491 53911866 Loss DMRTB1 Ewing''s sarcoma
22 35775 1 67181498 104009233 Loss SLC35D1 Ewing''s sarcoma
23 37996 1 9778925 10706826 Deletion APITD1 Ewing''s sarcoma
24 37997 1 9778925 10706826 Deletion CLSTN1 Ewing''s sarcoma
25 37998 1 9778925 10706826 Deletion CORT Ewing''s sarcoma
26 37999 1 9778925 10706826 Deletion CTNNBIP1 Ewing''s sarcoma
27 38000 1 9778925 10706826 Deletion DFFA Ewing''s sarcoma
28 38001 1 9778925 10706826 Deletion LZIC Ewing''s sarcoma
29 38002 1 9778925 10706826 Deletion NMNAT1 Ewing''s sarcoma
30 38003 1 9778925 10706826 Deletion PEX14 Ewing''s sarcoma
31 38004 1 9778925 10706826 Deletion PGD Ewing''s sarcoma
32 38005 1 9778925 10706826 Deletion RBP7 Ewing''s sarcoma
33 38141 10 1 135374737 Deletion Ewing''s sarcoma
34 41153 10 138206 135293404 Gain Ewing''s sarcoma
35 48491 11 1 52900000 Gain Ewing''s sarcoma
36 55430 11 52900000 134452384 Gain Ewing''s sarcoma
37 59789 11 777331 821974 Loss BM88 Ewing''s sarcoma
38 60445 11 86456481 127953177 Loss Ewing''s sarcoma
39 61420 12 1 132349534 Gain Ewing''s sarcoma
40 61533 12 1 35400000 Gain Ewing''s sarcoma
41 62737 12 111075038 111075556 Gain TRAFD1 Ewing''s sarcoma
42 63302 12 116955326 116955682 Copy number WSB2 Ewing''s sarcoma
43 64487 12 12873623 12874134 Gain DDX47 Ewing''s sarcoma
44 65323 12 1570852 1571348 Copy number FBXL14 Ewing''s sarcoma
45 66228 12 2670999 2671234 Deletion CACNA1C Ewing''s sarcoma
46 67041 12 35400000 132349534 Gain Ewing''s sarcoma
47 67472 12 41121456 41121979 Gain PPHLN1 Ewing''s sarcoma
48 68463 12 49967 52715434 Gain IQSEC3 Ewing''s sarcoma
49 68787 12 51501640 51502010 Copy number KRT79 Ewing''s sarcoma
50 69068 12 52981304 57130106 Gain Ewing''s sarcoma

Expression for Ewing Sarcoma

Search GEO for disease gene expression data for Ewing Sarcoma.

Pathways for Ewing Sarcoma

Pathways related to Ewing Sarcoma according to KEGG:

37
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

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

# Super pathways Score Top Affiliating Genes
1 12.22 FLI1 KIT