ES
MCID: EWN003
MIFTS: 68

Ewing Sarcoma (ES)

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

Aliases & Classifications for Ewing Sarcoma

MalaCards integrated aliases for Ewing Sarcoma:

Name: Ewing Sarcoma 56 12 52 25 58 73 36 13 15 17
Neuroepithelioma 56 74 52 54 71
Ewing's Sarcoma 74 52 25 29 6
Ewing's Tumor 12 52 25 73
Primitive Neuroectodermal Tumor 73 6 17
Peripheral Neuroepithelioma 58 73 54
Ewings Sarcoma 12 54 71
Askin Tumor 73 43 17
Localized Peripheral Primitive Neuroectodermal Tumor 12 71
Ewings Sarcoma-Primitive Neuroectodermal Tumor 12 71
Peripheral Primitive Neuroectodermal Tumor 12 58
Sarcoma, Ewing's 52 39
Ewing Tumor 52 25
Es 56 73
Localized Ewing's Sarcoma/peripheral Primitive Neuroectodermal Tumor 12
Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor 71
Ewing's Sarcoma/peripheral Primitive Neuroectodermal Tumor 12
Neuroectodermal Tumors, Primitive, Peripheral 43
Neuroectodermal Tumor, Primitive 71
Pnet of Thoracopulmonary Region 12
Ewing's Family Localized Tumor 12
Ewing Sarcoma Family of Tumors 73
Neuroepithelioma, Peripheral 71
Localized Ewing's Sarcoma 12
Tumor of the Ewing Family 25
Extraosseous Ewing Tumor 73
Localized Ewing Sarcoma 12
Localized Ewing's Tumor 12
Ewing Family of Tumors 25
Pnet of the Chest Wall 73
Peripheral Pnet 58
Disorder of Eye 71
Sarcoma, Ewing 43
Askin's Tumor 71
Ppnet 58
Pnet 73
Esft 73
Pne 73

Characteristics:

Orphanet epidemiological data:

58
ewing sarcoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Childhood;

HPO:

31
ewing sarcoma:
Inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare bone diseases


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. Ewing sarcomas most often occur in children and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone or surrounding tissue. Sometimes, there is a lump near the surface of the skin that feels warm and soft to the touch. Often, children have a fever that does not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and affected individuals may have a broken bone with no obvious cause. It is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow.

MalaCards based summary : Ewing Sarcoma, also known as neuroepithelioma, is related to extraosseous ewing sarcoma and ewing sarcoma of bone, 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 Chromatin Regulation / Acetylation. The drugs Lenograstim and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and lung, and related phenotypes are peripheral primitive neuroectodermal neoplasm and seizures

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

NIH Rare Diseases : 52 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 : 56 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)

KEGG : 36 Ewing sarcoma is the second most common malignant bone tumor occurring in children and young adults, and accounts for 10-15% of all primary bone tumors. The annual incidence is approximately 0.6/million total population, and it usually occurs between the ages of 10 and 20 years. Ewing's sarcoma is in 85% of cases associated with the translocation t(11;22)(q24;q12), which leads to the formation of the EWSR1-FLI1 fusion gene. In another 10-15% of cases the translocation t(21;12)(22;12) generates the EWSR1-ERG fusion, whereas the remaining 1-5% of cases may harbor one of several possible translocations, each resulting in a fusion gene containing a portion of the EWSR1 gene and a member of the ETS family of transcription factors.

UniProtKB/Swiss-Prot : 73 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 : 74 Ewing's sarcoma is a type of cancer that forms in bone or soft tissue. Symptoms may include swelling and... 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 1141)
# Related Disease Score Top Affiliating Genes
1 extraosseous ewing sarcoma 35.4 MYOG EWSR1 ETV4 ETV1 ENO2 CD99
2 ewing sarcoma of bone 35.2 EWSR1 CD99
3 extraskeletal ewing sarcoma 35.2 FUS FLI1 EWSR1 ERG ENO2 CD99
4 extraosseous ewings sarcoma-primitive neuroepithelial tumor 35.0 EWSR1 ENO2 CD99
5 supratentorial primitive neuroectodermal tumor 33.8 NCAM1 ENO2 CD99
6 askin's tumor 33.7 FLII FLI1 EWSR1 ETV4 ETV1 ENO2
7 intracranial primitive neuroectodermal tumor 33.4 ENO2 CD99
8 sarcoma 33.2 XAGE1B XAGE1A POU5F1 MYOG IGF1R FUS
9 cerebellopontine angle primitive neuroectodermal 32.9 NCAM1 ENO2 CD99
10 rhabdomyosarcoma 32.1 XAGE1B XAGE1A MYOG IGF1R EWSR1 ENO2
11 neuroblastoma 32.0 POU5F1 NF1 NCAM1 IGF1R EWSR1 ENO2
12 small cell osteogenic sarcoma 31.8 EWSR1 ENO2 CD99
13 teratoma 31.8 POU5F1 ENO2 CD99
14 sarcoma, synovial 31.7 NF1 MYOG IGF1R FUS FLI1 EWSR1
15 kidney rhabdoid cancer 31.6 EWSR1 ENO2
16 liposarcoma 31.4 TAF15 MYOG IGF1R FUS EWSR1
17 mesenchymal cell neoplasm 31.4 NF1 MYOG EWSR1
18 olfactory neuroblastoma 31.4 EWSR1 ENO2 CD99
19 fibrous histiocytoma 31.4 FUS EWSR1 ENO2
20 medulloblastoma 31.4 POU5F1 NF1 NCAM1 MYOG IGF1R ENO2
21 merkel cell carcinoma 31.4 NCAM1 ENO2 CD99
22 malignant teratoma 31.4 POU5F1 ENO2 CD99
23 subependymoma 31.4 NCAM1 ENO2
24 clear cell sarcoma 31.3 FUS EWSR1 ENO2
25 histiocytoma 31.3 MYOG FUS EWSR1 ENO2
26 cauda equina neoplasm 31.3 EWSR1 ENO2
27 neuroendocrine tumor 31.3 NCAM1 IGF1R ENO2
28 ectomesenchymoma 31.3 MYOG ENO2 CD99
29 ganglioneuroma 31.3 NCAM1 ENO2 CD99
30 rhabdomyosarcoma 2 31.2 MYOG IGF1R FLII EWSR1 ENO2 CD99
31 spinal cancer 31.2 NF1 ENO2 CD99
32 leiomyosarcoma 31.2 NF1 MYOG ENO2
33 rhabdoid cancer 31.2 MYOG EWSR1 ENO2
34 malignant peripheral nerve sheath tumor 31.2 NF1 MYOG IGF1R EYA3
35 myxoid liposarcoma 31.2 TAF15 IGF1R FUS EWSR1 ERG
36 localized osteosarcoma 31.2 IGF1R EWSR1
37 peripheral nervous system neoplasm 31.2 NF1 NCAM1 EWSR1 ENO2
38 central nervous system primitive neuroectodermal neoplasm 31.2 ENO2 CD99
39 extraosseous chondrosarcoma 31.2 TAF15 FUS EWSR1 ETV4 ETV1 ENO2
40 paraganglioma 31.2 NF1 NCAM1 ENO2
41 chondrosarcoma, extraskeletal myxoid 31.1 ZNF384 TAF15 FUS EWSR1 ETV4 ETV1
42 ring chromosome 31.1 IGF1R EWSR1
43 wilms tumor 1 31.1 NCAM1 MYOG IGF1R EWSR1 ENO2 CD99
44 muscle cancer 31.0 NF1 MYOG IGF1R EWSR1 ENO2 CD99
45 gastrointestinal stromal tumor 30.9 NF1 NCAM1 ETV1 ENO2
46 cellular myxoid liposarcoma 30.8 FUS EWSR1
47 melanotic neuroectodermal tumor 30.7 MYOG ENO2
48 lipomatosis, multiple 30.7 NF1 FUS EWSR1
49 benign teratoma 30.3 POU5F1 ENO2
50 primitive neuroectodermal tumor of the cervix uteri 12.6

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



Diseases related to Ewing Sarcoma

Symptoms & Phenotypes for Ewing Sarcoma

Human phenotypes related to Ewing Sarcoma:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peripheral primitive neuroectodermal neoplasm 58 31 obligate (100%) Obligate (100%) HP:0030067
2 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
3 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
4 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
5 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
6 abnormal bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0001892
7 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
8 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
9 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
10 back pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0003418
11 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
12 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
13 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
14 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
15 episodic abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002574
16 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
17 ovarian neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100615
18 neoplasm of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0002894
19 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270
20 torticollis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000473
21 lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007340
22 spinal cord tumor 58 31 occasional (7.5%) Occasional (29-5%) HP:0010302
23 metrorrhagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100608
24 uterine neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0010784
25 sensory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0003474
26 abnormality of the scalp 58 31 occasional (7.5%) Occasional (29-5%) HP:0001965
27 pelvic mass 58 31 occasional (7.5%) Occasional (29-5%) HP:0031501
28 elevated carcinoma antigen 125 level 58 31 occasional (7.5%) Occasional (29-5%) HP:0031030
29 upper limb pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012513
30 brain neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0030692
31 abnormality of the thoracic spine 58 31 occasional (7.5%) Occasional (29-5%) HP:0100711
32 precocious puberty 58 31 very rare (1%) Very rare (<4-1%) HP:0000826
33 proptosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000520
34 increased lactate dehydrogenase activity 58 31 very rare (1%) Very rare (<4-1%) HP:0025435
35 elevated alpha-fetoprotein 58 31 very rare (1%) Very rare (<4-1%) HP:0006254
36 abnormality of the superior cerebellar peduncle 58 31 very rare (1%) Very rare (<4-1%) HP:0011932
37 neoplasm of the scrotum 58 31 very rare (1%) Very rare (<4-1%) HP:0100849
38 ewing sarcoma 31 HP:0012254

Clinical features from OMIM:

612219

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 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.05 XAGE1A XAGE1B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.05 IGF1R
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.05 XAGE1A XAGE1B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.05 POU5F1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.05 CD99
6 Increased shRNA abundance (Z-score > 2) GR00366-A-127 10.05 IGF1R POU5F1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.05 CD99
8 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.05 ERG NF1 POU5F1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.05 XAGE1A XAGE1B ERG
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.05 IGF1R ERG
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.05 IGF1R
12 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.05 ERG
13 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.05 CD99
14 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.05 POU5F1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.05 CD99 IGF1R XAGE1A XAGE1B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.05 IGF1R
17 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.05 POU5F1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.05 ERG
19 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.05 CD99
20 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.05 IGF1R
21 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.05 NF1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.05 IGF1R
23 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.05 XAGE1A XAGE1B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.05 IGF1R
25 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.05 IGF1R ERG NF1 POU5F1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.05 IGF1R
27 Increased shRNA abundance (Z-score > 2) GR00366-A-96 10.05 CD99
28 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.05 NF1

MGI Mouse Phenotypes related to Ewing Sarcoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.23 ERG ETV4 FLI1 FLII IGF1R MYOG

Drugs & Therapeutics for Ewing Sarcoma

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

(show top 50) (show all 320)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 3 135968-09-1
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
3
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
5
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
6
leucovorin Approved Phase 3 58-05-9 6006 143
7
Epirubicin Approved Phase 3 56420-45-2 41867
8
Donepezil Approved Phase 3 120014-06-4 3152
9
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
10
Ondansetron Approved Phase 3 99614-02-5 4595
11
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
12 Cranberry Approved, Investigational Phase 3
13 Grape Approved Phase 3
14
Fluorouracil Approved Phase 3 51-21-8 3385
15
Streptozocin Approved, Investigational Phase 3 18883-66-4 29327
16
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
17
Daunorubicin Approved Phase 3 20830-81-3 30323
18
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
19
Histamine Approved, Investigational Phase 3 51-45-6 774
20
Cyproheptadine Approved Phase 3 129-03-3 2913
21
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
22
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
23
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538 444795
24 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
25
Treosulfan Investigational Phase 3 299-75-2 9296
26
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
27
Deslorelin Investigational, Vet_approved Phase 2, Phase 3 57773-65-6
28 Adjuvants, Immunologic Phase 3
29 Calcium, Dietary Phase 3
30 Hormones Phase 3
31 BB 1101 Phase 3
32 Antidotes Phase 3
33 Narcotics Phase 3
34 Anesthetics, General Phase 3
35 Analgesics, Opioid Phase 3
36 Adjuvants, Anesthesia Phase 3
37 Anesthetics, Intravenous Phase 3
38 Antiemetics Phase 3
39 Autonomic Agents Phase 3
40 Folic Acid Antagonists Phase 3
41 Vitamin B Complex Phase 3
42 Vitamin B9 Phase 3
43 Folate Phase 3
44 Diphosphonates Phase 3
45 Nootropic Agents Phase 3
46 Cholinergic Agents Phase 3
47 Cholinesterase Inhibitors Phase 3
48 Emetics Phase 3
49 Antineoplastic Agents, Hormonal Phase 2, Phase 3
50 Podophyllotoxin Phase 3 518-28-5

Interventional clinical trials:

(show top 50) (show all 428)
# Name Status NCT ID Phase Drugs
1 Clinical Effectiveness of Serum Chromogranin A (CgA) Levels on Diagnostic Relevance, Response After Surgical Resection and Recurrence of Pancreatic Endocrine Tumors (PET) Unknown status NCT02759718 Phase 4
2 Phase IV, Open-label, Multi-center, Single-arm Study of the Safety and Efficacy of Everolimus (Afinitor) in Adult Patients With Local Advanced or Metastatic, Well Differentiated Progressive Pancreatic Neuroendocrine Tumors (pNET) in China. Active, not recruiting NCT02842749 Phase 4 everolimus
3 EUROPEAN INTERGROUP COOPERATIVE EWING'S SARCOMA STUDY [EICESS 92] Unknown status NCT00002516 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;mesna;vincristine sulfate
4 European Ewing Tumour Working Initiative of National Groups Ewing Tumour Studies 1999 (EURO-E.W.I.N.G.99) Unknown status NCT00020566 Phase 3 busulfan;doxorubicin hydrochloride;etoposide;ifosfamide;melphalan;vincristine sulfate
5 Phase II Prospective Study of Sequential Myeloablative Chemotherapy With Stem Cell Rescue for the Treatment of Selected High Risk CNS Tumors and Recurrent CNS Tumors Unknown status NCT00179803 Phase 2, Phase 3
6 Dose Intensive Chemotherapy for Children Less Than Ten Years of Age Newly-Diagnosed With Malignant Brain Tumors: A Pilot Study of Two Alternative Intensive Induction Chemotherapy Regimens, Followed by Consolidation With Myeloablative Chemotherapy (Thiotepa and Carboplatin, With or Without Etoposide) and Autologous Stem Cell Rescue [HEAD START III] Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
7 Trial of Chemotherapy Intensification Through Compression in Ewing's Sarcoma and Related Tumors Completed NCT00006734 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
8 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
9 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
10 Phase 3, Open Label, Multi-centre, Randomised Controlled International Study in Ewing Sarcoma Completed NCT00987636 Phase 3 Zoledronic acid;Busulfan;Treosulfan
11 Phase III Double Blind, Placebo Controlled Study of Donepezil in the Irradiated Brain Completed NCT00369785 Phase 3 donepezil hydrochloride;Placebo
12 Trial of Chemotherapy Utilizing Carboplatin, Vincristine, Cyclophosphamide and Etoposide for the Treatment of Central Nervous System Primitive Neurectodermal Tumors of Childhood Completed NCT00003859 Phase 3 carboplatin;cyclophosphamide;etoposide;vincristine sulfate
13 Systemic Chemotherapy, Second Look Surgery and Conformal Radiation Therapy Limited to the Posterior Fossa and Primary Site for Children &gt;/= to 8 Months and &lt;3 Years With Non-metastatic Medulloblastoma: A Children&Apos;s Oncology Group Phase III Study Completed NCT00006461 Phase 3 cisplatin;cyclophosphamide;vincristine sulfate;etoposide
14 Randomized Controlled Trial of Acupressure to Control Chemotherapy-Induced Nausea (CIN) in Children Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
15 Music Video and Adolescent/Young Adult Resilience During Transplant Completed NCT00305851 Phase 3
16 A Phase III Randomized Trial for the Treatment of Newly Diagnosed Supratentorial PNET and High Risk Medulloblastoma in Children &lt;36 Months Old With Intensive Induction Chemotherapy With Methotrexate Followed by Consolidation With Stem Cell Rescue Versus the Same Therapy Without Methotrexate Completed NCT00336024 Phase 3 etoposide;cyclophosphamide;cisplatin;carboplatin;thiotepa;methotrexate;leucovorin calcium;vincristine sulfate
17 A Multi-Center Phase III, Randomized, Open-Label Trial of Vigil (Bi-shRNAfurin and GMCSF Augmented Autologous Tumor Cell Immunotherapy) in Combination With Irinotecan and Temozolomide as a Second-Line Regimen for Ewing's Sarcoma Recruiting NCT03495921 Phase 3 Irinotecan;Temozolomide
18 An International Prospective Study on Clinically Standard-risk Medulloblastoma in Children Older Than 3 to 5 Years With Low-risk Biological Profile (PNET 5 MB-LR) or Average-risk Biological Profile (PNET 5 MB-SR) Recruiting NCT02066220 Phase 2, Phase 3 Reduced-intensity maintenance chemotherapy;Maintenance chemotherapy
19 Randomized Open Label Study to Compare the Efficacy and Safety of Everolimus Followed by Chemotherapy With Streptozotocin- Fluorouracilo (STZ-5FU) Upon Progression or the Reverse Sequence, in Advanced Progressive Pancreatic NETs (pNETs) Recruiting NCT02246127 Phase 3 Drug: Everolimus;STZ-5FU
20 Randomized Phase 3 Trial Evaluating the Addition of the IGF-1R Monoclonal Antibody Ganitumab (AMG 479, NSC# 750008) to Multiagent Chemotherapy for Patients With Newly Diagnosed Metastatic Ewing Sarcoma Active, not recruiting NCT02306161 Phase 3 Cyclophosphamide;Doxorubicin;Doxorubicin Hydrochloride;Etoposide;Etoposide Phosphate;Ifosfamide;Vincristine;Vincristine Sulfate
21 A Phase III Randomized Trial of Adding Vincristine-Topotecan-Cyclophosphamide to Standard Chemotherapy in Initial Treatment of Non-Metastatic Ewing Sarcoma Active, not recruiting NCT01231906 Phase 3 Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Ifosfamide;Topotecan Hydrochloride;Vincristine Sulfate
22 Phase III Study on Efficacy of Dose Intensification in Patients With Non-metastatic Ewing Sarcoma. Active, not recruiting NCT02063022 Phase 3 Standard treatment (as per protocol ISG SSG III);Intensified chemotherapy
23 Efficacy of Carboplatin Administered Concomitantly With Radiation and Isotretinoin as a Pro-Apoptotic Agent in Other Than Average Risk Medulloblastoma/PNET Patients Active, not recruiting NCT00392327 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Isotretinoin;Vincristine Sulfate
24 Treatment of Patients With Newly Diagnosed Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Active, not recruiting NCT00085202 Phase 3 cisplatin;cyclophosphamide;vincristine
25 Assessment of the Effect of a Co-treatment With GnRH Analogs on the Ovarian Reserve in Adolescents and Young Women Treated With Alkylating Agents for Cancer Active, not recruiting NCT02856048 Phase 2, Phase 3 Triptorelin (GnRHa) + Chemotherapy
26 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
27 Comparative Evaluation of MRI and MDCT for the Detection of Metastic Pulmonary Nodules Terminated NCT00751920 Phase 3
28 A Phase III Randomized Trial of Adding Vincristine-Topotecan-Cyclophosphamide to Standard Chemotherapy in Initial Treatment of Non-Metastatic Ewing Sarcoma Withdrawn NCT00334867 Phase 3 cyclophosphamide;dexrazoxane hydrochloride;doxorubicin hydrochloride;etoposide;ifosfamide;topotecan hydrochloride;vincristine sulfate
29 Post-operative Radiotherapy Randomization in Poor Responders Ewing's Sarcoma Patients Withdrawn NCT01734863 Phase 3
30 The Use Of Umbilical Cord Blood As A Source Of Hematopoietic Stem Cells Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
31 Hematopoietic Stem Cell Transplantation From HLA Compatible Donor in Ewing Sarcomas and Soft Tissues Sarcomas Unknown status NCT00998361 Phase 2
32 Activity and Safety of Everolimus in Combination With Octreotide LAR and Metformin in Patients With Advanced Pancreatic Well-differentiated Neuroendocrine Tumors (pWDNETs): a Phase II, Open, Monocentric, Prospective Study Unknown status NCT02294006 Phase 2 Everolimus plus Octreotide LAR plus Metformin
33 High-Dose Chemotherapy With Tandem Peripheral Blood Stem Cell (PBSC) Rescue for the Treatment of High-Risk Pediatric Solid Tumors. Unknown status NCT00179816 Phase 1, Phase 2 High-Dose Chemotherapy with Tandem PBSC Rescue.
34 Phase II Study of Vinorelbine + Cyclofosfamide Association Among Patients Reached of Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
35 Phase II Randomized Multicenter Study of Everolimus as Maintenance Therapy for Metastatic Neuroendocrine Carcinoma With Pulmonary or Gastroenteropancreatic Origin Unknown status NCT02687958 Phase 2 Everolimus
36 Hyperfractionated Accelerated Radiotherapy (HART) With Chemotherapy (Cisplatin, CCNU, Vincristine) for Non-Pineal Supratentorial Primitive Neuroectodermal Tumours Unknown status NCT00274911 Phase 2 cisplatin;lomustine;vincristine sulfate
37 Management of Children Aged Less Than 3 Years With Brain Tumors Unknown status NCT00281905 Phase 2 carboplatin;cisplatin;cyclophosphamide;methotrexate;vincristine sulfate
38 Treatment Protocol for High-Risk PNET Brain Tumors in Children With Surgery, Sequential Chemotherapy, Conventional and High-Dose With Peripheral Blood Stem Cell Transplantation and Radiation Therapy Unknown status NCT00180791 Phase 2 Etoposide, carboplatin, melphalan, cisplatin, thiotepa
39 A Randomized, Placebo-Controlled Pilot Study of Genistein Supplementation in Pediatric Cancer Patients Receiving Myelosuppressive Chemotherapy Unknown status NCT02624388 Phase 2 Genistein;Placebo
40 A Phase II Trial of Concurrent Sunitinib, Temozolomide and Radiation Therapy Followed by Adjuvant Temozolomide for Newly Diagnosed Glioblastoma Patients With an Unmethylated MGMT Gene Promoter Unknown status NCT02928575 Phase 2 Sunitinib;Temozolomide
41 A Prospective, Multicentre Trial on the Value of 18F-FET PET in the Post-therapeutic Evaluation of Childhood Brain Tumours Unknown status NCT03216148 Phase 2
42 Phase II Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer (CRAD001CUS242T) Unknown status NCT02188550 Phase 2 everolimus and letrozole
43 Phase II Study of Cyclophosphamide, Doxorubicin, Vincristine, Etoposide, and Ifosfamide, Followed by Resection and Radiotherapy in Patients With Peripheral Primitive Neuroectodermal Tumors or Ewing's Sarcoma Completed NCT00002466 Phase 2 cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
44 A Phase II Study Of Intravenous DX-8951f (EXATECAN MESYLATE) Administered Daily For Five Days Every Three Weeks To Pediatric And Young Adult Patients With Ewing's Sarcoma (ES), Primitive Neuroectodermal Tumor (PNET), Or Desmoplastic Small Round Cell Tumor (DSRCT) Completed NCT00055952 Phase 2 exatecan mesylate
45 Randomized Phase II Study of Vincristine, Doxorubicin, Cyclophosphamide and Dexrazoxane With and Without ImmTher for Newly Diagnosed High Risk Ewing's Sarcoma Completed NCT00003667 Phase 2 cyclophosphamide;dexrazoxane hydrochloride;disaccharide tripeptide glycerol dipalmitoyl;doxorubicin hydrochloride;vincristine sulfate
46 A Phase I/II Study of 166Ho-DOTMP With Peripheral Blood Progenitor Cell Support for Refractory or Recurrent Ewing's Sarcoma Family of Tumors With Bone Disease Completed NCT00006234 Phase 1, Phase 2
47 Phase II Trial of Intermediate-Dose Cytarabine to Modulate EWS/FLI for Children and Young Adults With Recurrent or Refractory Ewing Sarcoma Completed NCT00470275 Phase 2 cytarabine
48 Phase II Study of Irinotecan (CPT-11) in Children and Adolescents With High Risk Ewing's Sarcoma Completed NCT00276692 Phase 2 irinotecan hydrochloride
49 A Phase II Clinical and Correlative Study of BAY 43-9006 (Sorafenib) IND 69,896 in Sarcoma Completed NCT00330421 Phase 2 sorafenib tosylate
50 A Five-Tier, Phase 2 Open-Label Study of IMC-A12 Administered as a Single Agent Every 2 Weeks in Patients With Previously-Treated, Advanced or Metastatic Soft Tissue and Ewing's Sarcoma/PNET Completed NCT00668148 Phase 2

Search NIH Clinical Center for Ewing Sarcoma

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Cyclophosphamide
Etoposide
etoposide phosphate
Prednisone
PREDNISONE PWDR

Cochrane evidence based reviews: sarcoma, ewing

Genetic Tests for Ewing Sarcoma

Genetic tests related to Ewing Sarcoma:

# Genetic test Affiliating Genes
1 Ewing's Sarcoma 29 EWSR1

Anatomical Context for Ewing Sarcoma

MalaCards organs/tissues related to Ewing Sarcoma:

40
Bone, Brain, Lung, Bone Marrow, T Cells, Kidney, Thyroid

Publications for Ewing Sarcoma

Articles related to Ewing Sarcoma:

(show top 50) (show all 3721)
# Title Authors PMID Year
1
Ewing sarcoma family of tumors. 54 61 56
16096383 2005
2
EWS-FLI1 increases transcription to cause R-loops and block BRCA1 repair in Ewing sarcoma. 61 56
29513652 2018
3
Prognostic significance of p16 INK4a alteration for Ewing sarcoma: a meta-analysis. 61 56
17661343 2007
4
Esthesioneuroblastoma is not a member of the primitive peripheral neuroectodermal tumour-Ewing's group. 61 56
10574242 1999
5
A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1. 54 56
7700648 1995
6
The neuroepithelioma breakpoint on chromosome 22 is proximal to the meningioma locus. 61 56
2303258 1990
7
Comparative mapping of the constitutional and tumor-associated 11;22 translocations. 61 56
2741943 1989
8
Translocation t(11;22) in esthesioneuroblastoma. 61 56
3478125 1987
9
Comparison of constitutional and tumor-associated 11;22 translocations: nonidentical breakpoints on chromosomes 11 and 22. 61 56
3461479 1986
10
Cytogenetic characterization of selected small round cell tumors of childhood. 61 56
3004699 1986
11
Translocation of oncogene c-sis from chromosome 22 to chromosome 11 in a Ewing sarcoma-derived cell line. 61 56
2983195 1985
12
Chromosome translocation in peripheral neuroepithelioma. 61 56
6749231 1984
13
A patient with two Ewing's sarcomas with distinct EWS fusion transcripts. 56
15044653 2004
14
EWS-FLI1 and EWS-ERG gene fusions are associated with similar clinical phenotypes in Ewing's sarcoma. 56
10561219 1999
15
Differential transactivation by alternative EWS-FLI1 fusion proteins correlates with clinical heterogeneity in Ewing's sarcoma. 56
10197607 1999
16
EWS-FLI1 fusion transcripts identified in patients with typical neuroblastoma. 56
9135495 1997
17
EWS-Fli1 antisense oligodeoxynucleotide inhibits proliferation of human Ewing's sarcoma and primitive neuroectodermal tumor cells. 56
9005992 1997
18
Overexpression of the pseudoautosomal gene MIC2 in Ewing's sarcoma and peripheral primitive neuroectodermal tumor. 56
1695726 1990
19
Chromosomes in Ewing's sarcoma. I. An evaluation of 85 cases of remarkable consistency of t(11;22)(q24;q12). 56
3163261 1988
20
Chromosomes in Ewing's sarcoma. II. Nonrandom additional changes, trisomy 8 and der(16)t(1;16). 56
3163262 1988
21
t(11;22) and other chromosomal rearrangements in Ewing's sarcoma. 56
3467113 1986
22
Chromosomal abnormalities in secondary Ewing's sarcoma. 56
6148551 1984
23
Chromosome study of Ewing's sarcoma (ES) cell lines. Consistency of a reciprocal translocation t(11;22)(q24;q12). 56
6713356 1984
24
Translocation involving chromosome 22 in Ewing's sarcoma. A cytogenetic study of four fresh tumors. 56
6713357 1984
25
Neuroblastoma and the differential diagnosis of small-, round-, blue-cell tumors. 56
6345338 1983
26
Biological rationale and current clinical experience with anti-insulin-like growth factor 1 receptor monoclonal antibodies in treating sarcoma: twenty years from the bench to the bedside. 54 61
20526094 2010
27
Central nervous system primitive neuroectodermal tumors: a clinicopathologic and genetic study of 33 cases. 54 61
19725831 2010
28
ABT-869 inhibits the proliferation of Ewing Sarcoma cells and suppresses platelet-derived growth factor receptor beta and c-KIT signaling pathways. 54 61
20197394 2010
29
Specificity of fusion genes in adipocytic tumors. 54 61
20332486 2010
30
Phase II clinical trial of imatinib mesylate in therapy of KIT and/or PDGFRalpha-expressing Ewing sarcoma family of tumors and desmoplastic small round cell tumors. 54 61
20332468 2010
31
Diagnostic utility of nestin expression in pediatric tumors in the region of the kidney. 54 61
19417621 2009
32
Identification of a tripartite import signal in the Ewing Sarcoma protein (EWS). 54 61
19879242 2009
33
Critical signaling pathways in bone sarcoma: candidates for therapeutic interventions. 54 61
19840522 2009
34
Immunohistochemical evaluation of FLI-1 in acute lymphoblastic lymphoma (ALL): a potential diagnostic pitfall. 54 61
19349856 2009
35
Stable interference of EWS-FLI1 in an Ewing sarcoma cell line impairs IGF-1/IGF-1R signalling and reveals TOPK as a new target. 54 61
19491900 2009
36
Ewing's sarcoma: standard and experimental treatment options. 54 61
19533369 2009
37
Coexpression of alpha6beta4 integrin and guanine nucleotide exchange factor Net1 identifies node-positive breast cancer patients at high risk for distant metastasis. 54 61
19124484 2009
38
Rapamycin inhibits F-actin reorganization and phosphorylation of focal adhesion proteins. 54 61
18504440 2008
39
Coupled alteration of transcription and splicing by a single oncogene: boosting the effect on cyclin D1 activity. 54 61
18677114 2008
40
A pivotal role for heat shock protein 90 in Ewing sarcoma resistance to anti-insulin-like growth factor 1 receptor treatment: in vitro and in vivo study. 54 61
18676850 2008
41
A comparative immunohistochemical analysis of small round cell tumors of childhood: utility of peripherin and alpha-internexin as markers for neuroblastomas. 54 61
18528283 2008
42
The Ewing sarcoma protein (EWS) binds directly to the proximal elements of the macrophage-specific promoter of the CSF-1 receptor (csf1r) gene. 54 61
18453593 2008
43
The RASSF1A tumor suppressor restrains anaphase-promoting complex/cyclosome activity during the G1/S phase transition to promote cell cycle progression in human epithelial cells. 54 61
18347058 2008
44
Alteration of cyclin D1 transcript elongation by a mutated transcription factor up-regulates the oncogenic D1b splice isoform in cancer. 54 61
18413612 2008
45
A phase II study of imatinib mesylate in children with refractory or relapsed solid tumors: a Children's Oncology Group study. 54 61
17262795 2008
46
Ewing sarcoma protein ewsr1 maintains mitotic integrity and proneural cell survival in the zebrafish embryo. 54 61
17912356 2007
47
Expression of MYCN in pediatric synovial sarcoma. 54 61
17464317 2007
48
Primary Ewing sarcoma of the brain: a case report and literature review. 54 61
17525681 2007
49
Evidence for a role of glycosphingolipids in CXCR4-dependent cell migration. 54 61
17511990 2007
50
Immunostaining for SYT protein discriminates synovial sarcoma from other soft tissue tumors: analysis of 146 cases. 54 61
17334346 2007

Variations for Ewing Sarcoma

ClinVar genetic disease variations for Ewing Sarcoma:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NF1 NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter)SNV Pathogenic 185082 rs772295894 17:29665757-29665757 17:31338739-31338739
2 NF1 NM_001042492.3(NF1):c.7186A>T (p.Lys2396Ter)SNV Pathogenic 690368 17:29670150-29670150 17:31343132-31343132
3 ERG , EWSR1 t(21;22)(q21;q12)Translocation Pathogenic 690369
4 TSC1 NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys)SNV Conflicting interpretations of pathogenicity 41690 rs118203532 9:135781505-135781505 9:132906118-132906118
5 CDK4 NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)SNV Conflicting interpretations of pathogenicity 127520 rs201617914 12:58143008-58143008 12:57749225-57749225
6 BAP1 NM_004656.4(BAP1):c.256-3C>ASNV Conflicting interpretations of pathogenicity 472695 rs752536342 3:52442096-52442096 3:52408080-52408080

Cosmic variations for Ewing Sarcoma:

9 (show top 50) (show all 109)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87902864 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 9
2 COSM87935416 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 9
3 COSM93992510 SRC soft tissue,lung,sarcoma,NS c.205T>G p.S69A 20:37384358-37384358 9
4 COSM92479334 SH2B3 soft tissue,upper leg,sarcoma,NS c.232G>A p.E78K 12:111418377-111418377 9
5 COSM93451505 RAC1 soft tissue,lung,sarcoma,NS c.533C>T p.A178V 7:6402343-6402343 9
6 COSM101931022 PTPRD soft tissue,lung,sarcoma,NS c.4160C>T p.A1387V 9:8404587-8404587 9
7 COSM90842465 PTCH1 soft tissue,lung,sarcoma,NS c.2921T>G p.F974C 9:95458260-95458260 9
8 COSM87210160 PIK3CA soft tissue,lung,sarcoma,NS c.1036G>T p.V346L 3:179203766-179203766 9
9 COSM101270110 PBRM1 soft tissue,lung,sarcoma,NS c.2834G>A p.R945H 3:52589201-52589201 9
10 COSM98770048 PAK5 soft tissue,lung,sarcoma,NS c.41C>A p.P14Q 20:9644288-9644288 9
11 COSM88525472 NUP93 soft tissue,upper leg,sarcoma,NS c.116C>T p.A39V 16:56748363-56748363 9
12 COSM97107943 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 9
13 COSM87804075 KRAS soft tissue,lung,sarcoma,NS c.34G>T p.G12C 12:25245351-25245351 9
14 COSM87804055 KRAS soft tissue,lung,sarcoma,NS c.35G>T p.G12V 12:25245350-25245350 9
15 COSM87850803 HGF soft tissue,lung,sarcoma,NS c.1711G>T p.V571L 7:81706333-81706333 9
16 COSM95516578 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 9
17 COSM100583919 GPS2 soft tissue,lung,sarcoma,NS c.454C>T p.Q152* 17:7313932-7313932 9
18 COSM87494413 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 9
19 COSM142908710 FOXP1 soft tissue,lung,sarcoma,NS c.74A>G p.H25R 3:71198308-71198308 9
20 COSM100233796 ERCC2 soft tissue,lung,sarcoma,NS c.1831+1G>T p.? 19:45353082-45353082 9
21 COSM87618826 ANKRD11 soft tissue,upper leg,sarcoma,NS c.2882G>T p.R961L 16:89283660-89283660 9
22 COSM117948203 soft tissue,lung,sarcoma,NS c.2939C>T p.A980V 9:8404587-8404587 9
23 COSM106841030 soft tissue,lung,sarcoma,NS c.2468T>G p.F823C 9:95458260-95458260 9
24 COSM106056882 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 9
25 COSM111763021 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 9
26 COSM144313682 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 9
27 COSM105659131 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 9
28 COSM118450453 soft tissue,lung,sarcoma,NS c.74A>G p.H25R 3:71198308-71198308 9
29 COSM134990158 soft tissue,lung,sarcoma,NS c.35G>T p.G12V 12:25245350-25245350 9
30 COSM93187807 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 9
31 COSM120158796 soft tissue,lung,sarcoma,NS c.74A>G p.H25R 3:71198308-71198308 9
32 COSM143854306 soft tissue,lung,sarcoma,NS c.74A>G p.H25R 3:71198308-71198308 9
33 COSM116715747 soft tissue,lung,sarcoma,NS c.74A>G p.H25R 3:71198308-71198308 9
34 COSM103461667 soft tissue,lung,sarcoma,NS c.2468T>G p.F823C 9:95458260-95458260 9
35 COSM91788538 soft tissue,lung,sarcoma,NS c.2834G>A p.R945H 3:52589201-52589201 9
36 COSM102558626 soft tissue,lung,sarcoma,NS c.2834G>A p.R945H 3:52589201-52589201 9
37 COSM132326062 soft tissue,lung,sarcoma,NS c.4160C>T p.A1387V 9:8404587-8404587 9
38 COSM135372634 soft tissue,upper leg,sarcoma,NS c.116C>T p.A39V 16:56748363-56748363 9
39 COSM143375075 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 9
40 COSM105624912 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 9
41 COSM110727009 soft tissue,lung,sarcoma,NS c.2723T>G p.F908C 9:95458260-95458260 9
42 COSM122766413 soft tissue,upper leg,sarcoma,NS c.103C>T p.Q35* 17:7675113-7675113 9
43 COSM134990190 soft tissue,lung,sarcoma,NS c.34G>T p.G12C 12:25245351-25245351 9
44 COSM145021980 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 9
45 COSM98577250 soft tissue,upper leg,sarcoma,NS c.2882G>T p.R961L 16:89283660-89283660 9
46 COSM93215390 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 9
47 COSM143182864 soft tissue,upper leg,sarcoma,NS c.22C>T p.Q8* 17:7675113-7675113 9
48 COSM144334467 soft tissue,upper leg,sarcoma,NS c.382C>T p.Q128* 17:7675113-7675113 9
49 COSM143972614 soft tissue,upper leg,sarcoma,NS c.22C>T p.Q8* 17:7675113-7675113 9
50 COSM93619977 soft tissue,lung,sarcoma,NS c.2738G>A p.R913H 3:52589201-52589201 9

Copy number variations for Ewing Sarcoma from CNVD:

7 (show top 50) (show all 157)
# CNVD ID Chromosome 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:

36
# 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 11.66 TAF15 FUS EWSR1 ERG
2 11.49 TAF15 IGF1R FUS FLI1 EWSR1 ETV4

GO Terms for Ewing Sarcoma

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.1 POU5F1 MYOG FLI1 ETV4 ETV1 ERG

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.43 ZNF384 FUS FLI1 ETV4 ETV1 ERG
2 regulation of transcription, DNA-templated GO:0006355 9.28 TAF15 POU5F1 MYOG FUS FLI1 EWSR1
3 mRNA transcription by RNA polymerase II GO:0042789 9.26 POU5F1 MYOG
4 gene expression GO:0010467 9.16 TAF15 FUS

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 ZNF384 TAF15 POU5F1 MYOG FUS FLI1
2 protein binding GO:0005515 9.91 XAGE1B XAGE1A TAF15 POU5F1 NF1 NCAM1
3 DNA-binding transcription factor activity GO:0003700 9.88 POU5F1 MYOG FLI1 ETV4 ETV1 ERG
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.77 MYOG FLI1 ETV4 ETV1 ERG
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.65 MYOG FLI1 ETV4 ETV1 ERG
6 sequence-specific DNA binding GO:0043565 9.63 POU5F1 MYOG FLI1 ETV4 ETV1 ERG
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 ZNF384 POU5F1 MYOG FLI1 ETV4 ETV1

Sources for Ewing Sarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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