ES
MCID: EWN003
MIFTS: 70

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 20 43 72 36 13 15 17
Neuroepithelioma 57 73 20 54 70
Ewing's Sarcoma 73 20 43 29 6
Ewing's Tumor 12 20 43 72
Primitive Neuroectodermal Tumor 72 6 17
Peripheral Neuroepithelioma 58 72 54
Ewings Sarcoma 12 54 70
Localized Peripheral Primitive Neuroectodermal Tumor 12 70
Ewings Sarcoma-Primitive Neuroectodermal Tumor 12 70
Peripheral Primitive Neuroectodermal Tumor 12 58
Sarcoma, Ewing's 20 39
Askin Tumor 72 44
Ewing Tumor 20 43
Es 57 72
Localized Ewing's Sarcoma/peripheral Primitive Neuroectodermal Tumor 12
Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor 70
Ewing's Sarcoma/peripheral Primitive Neuroectodermal Tumor 12
Neuroectodermal Tumors, Primitive, Peripheral 44
Neuroectodermal Tumor, Primitive 70
Pnet of Thoracopulmonary Region 12
Ewing's Family Localized Tumor 12
Ewing Sarcoma Family of Tumors 72
Neuroepithelioma, Peripheral 70
Localized Ewing's Sarcoma 12
Tumor of the Ewing Family 43
Extraosseous Ewing Tumor 72
Localized Ewing Sarcoma 12
Localized Ewing's Tumor 12
Ewing Family of Tumors 43
Skeletal Ewing Sarcoma 58
Pnet of the Chest Wall 72
Osseous Ewing Sarcoma 58
Peripheral Pnet 58
Disorder of Eye 70
Sarcoma, Ewing 44
Askin's Tumor 70
Ppnet 58
Pnet 72
Esft 72
Pne 72

Characteristics:

Orphanet epidemiological data:

58
skeletal 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

MedlinePlus Genetics : 43 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 Treosulfan and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and bone marrow, and related phenotypes are peripheral primitive neuroectodermal neoplasm and nausea and vomiting

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

GARD : 20 Ewing sarcoma is a type of cancerous tumor that mainly affects children and young adults. Ewing sarcoma usually occurs in the long bones of the arms and legs, pelvis, or chest. Symptoms may include swelling over the location of the tumor, and pain which gets worse over time. Other symptoms may depend on the size and location of the tumor. Ewing sarcoma can spread to other parts of the body ( metastasize ), and other symptoms may develop such as fever, night sweats, and tiredness. The cause of Ewing sarcoma is unknown. Diagnosis is based on a clinical examination, health history, imaging studies, and blood tests. A biopsy to examine a small piece of the tumor under a microscope is also often done. Treatment depends upon the size, location, and whether the tumor has spread. It usually includes chemotherapy, radiation and/or surgery. Many people with Ewing sarcoma experience side effects from treatment which can include decreased numbers of white blood cells, infections, fever, and an increased risk for a second cancer.

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) (Updated 05-Apr-2021)

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 : 72 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 : 73 Ewing sarcoma is a type of cancer that may be a bone sarcoma or a soft-tissue sarcoma. Symptoms may... 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 785)
# Related Disease Score Top Affiliating Genes
1 extraosseous ewing sarcoma 33.3 NCAM1 FLII EWSR1 ETV4 ETV1 ENO2
2 ewing sarcoma of bone 33.2 FLII FLI1 EWSR1 ENO2 CD99
3 extraskeletal ewing sarcoma 33.1 FLI1 EWSR1 ERG
4 sarcoma 33.1 WT1 KIT FUS FLI1 EWSR1 EWSAT1
5 extraosseous ewings sarcoma-primitive neuroepithelial tumor 32.6 EWSR1 ENO2 CD99
6 askin's tumor 32.6 IGF1R FLII FLI1 EWSR1 ETV4 ETV1
7 intracranial primitive neuroectodermal tumor 32.3 EWSR1 ENO2 CD99
8 cerebellopontine angle primitive neuroectodermal tumor 32.2 NCAM1 ENO2 CD99
9 rare tumor 31.8 KIT EWSR1
10 desmoplastic small round cell tumor 31.5 WT1 FLI1 EWSR1 ENO2 CD99
11 small cell osteogenic sarcoma 31.5 EWSR1 ENO2 CD99
12 rhabdomyosarcoma 31.4 WT1 NF1 NCAM1 KIT IGF1R FUS
13 neuroblastoma 31.4 NF1 NCAM1 KIT IGF1R EWSR1 ENO2
14 sarcoma, synovial 31.2 WT1 NF1 KIT IGF1R FUS FLI1
15 kidney rhabdoid cancer 31.2 EWSR1 ENO2
16 neuroendocrine carcinoma 31.1 NCAM1 KIT ENO2
17 merkel cell carcinoma 31.1 NCAM1 KIT ENO2 CD99
18 fibrous histiocytoma 31.1 KIT FUS EWSR1 ENO2 ATF1
19 olfactory neuroblastoma 31.1 EWSR1 ENO2 CD99
20 rhabdomyosarcoma 2 31.1 WT1 IGF1R FLII EWSR1 ENO2
21 small cell carcinoma 31.0 NCAM1 KIT ENO2
22 liposarcoma 31.0 TAF15 NF1 IGF1R FUS EWSR1
23 cauda equina neoplasm 31.0 WT1 EWSR1 ENO2
24 malignant teratoma 31.0 KIT ENO2 CD99
25 connective tissue benign neoplasm 31.0 KIT EWSR1 ENO2
26 neuroendocrine tumor 31.0 NCAM1 IGF1R ENO2
27 ganglioneuroma 31.0 NCAM1 ENO2 CD99
28 clear cell sarcoma 31.0 WT1 KIT FUS EWSR1 ENO2 ATF1
29 myxoid liposarcoma 30.9 IGF1R FUS EWSR1 ERG ATF1
30 localized osteosarcoma 30.9 IGF1R EWSR1
31 wilms tumor 1 30.9 WT1 NCAM1 IGF1R FLI1 EWSR1 ENO2
32 ectomesenchymoma 30.8 ENO2 CD99
33 nasal cavity benign neoplasm 30.8 NCAM1 KIT
34 central nervous system primitive neuroectodermal neoplasm 30.8 ENO2 CD99
35 neurilemmoma 30.8 NF1 KIT ENO2
36 subependymoma 30.8 NCAM1 ENO2
37 bladder sarcoma 30.8 KIT EWSR1 CD99
38 small intestinal sarcoma 30.8 WT1 KIT EWSR1
39 leiomyosarcoma 30.7 WT1 NF1 KIT ENO2
40 rhabdoid cancer 30.7 WT1 IGF1R EWSR1
41 hemangiopericytoma, malignant 30.7 KIT ENO2 CD99
42 paraganglioma 30.7 NF1 NCAM1 KIT ENO2
43 extraosseous chondrosarcoma 30.7 TAF15 FUS EWSR1 ETV1 ENO2
44 lung sarcoma 30.7 TAF15 EWSR1
45 malignant peripheral nerve sheath tumor 30.7 WT1 NF1 KIT IGF1R EYA3
46 large cell neuroendocrine carcinoma 30.7 NCAM1 KIT ENO2
47 lipomatosis, multiple 30.7 NF1 KIT FUS EWSR1
48 bone osteosarcoma 30.6 FLII EWSR1 ENO2 CD99
49 ring chromosome 30.6 IGF1R EWSR1
50 acute leukemia 30.6 WT1 TAF15 NCAM1 KIT

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 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 peripheral primitive neuroectodermal neoplasm 58 31 obligate (100%) Obligate (100%) HP:0030067
2 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
3 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
4 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
5 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
6 back pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0003418
7 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
8 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
9 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
10 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
11 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
12 abnormal bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0001892
13 spinal cord tumor 58 31 occasional (7.5%) Occasional (29-5%) HP:0010302
14 ovarian neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100615
15 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
16 torticollis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000473
17 neoplasm of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0002894
18 sensory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0003474
19 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270
20 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
21 uterine neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0010784
22 upper limb pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012513
23 metrorrhagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100608
24 episodic abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002574
25 lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007340
26 brain neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0030692
27 elevated carcinoma antigen 125 level 58 31 occasional (7.5%) Occasional (29-5%) HP:0031030
28 pelvic mass 58 31 occasional (7.5%) Occasional (29-5%) HP:0031501
29 seizure 31 occasional (7.5%) HP:0001250
30 abnormal scalp morphology 31 occasional (7.5%) HP:0001965
31 abnormal thoracic spine morphology 31 occasional (7.5%) 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 elevated alpha-fetoprotein 58 31 very rare (1%) Very rare (<4-1%) HP:0006254
35 abnormality of the superior cerebellar peduncle 58 31 very rare (1%) Very rare (<4-1%) HP:0011932
36 neoplasm of the scrotum 58 31 very rare (1%) Very rare (<4-1%) HP:0100849
37 increased lactate dehydrogenase level 31 very rare (1%) HP:0025435
38 seizures 58 Occasional (29-5%)
39 ewing sarcoma 31 HP:0012254
40 abnormality of the scalp 58 Occasional (29-5%)
41 abnormality of the thoracic spine 58 Occasional (29-5%)
42 increased lactate dehydrogenase activity 58 Very rare (<4-1%)

Clinical features from OMIM®:

612219 (Updated 05-Apr-2021)

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 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.23 NCAM1
2 Decreased viability GR00221-A-1 10.23 IGF1R KIT NF1
3 Decreased viability GR00221-A-2 10.23 IGF1R NF1
4 Decreased viability GR00221-A-3 10.23 IGF1R
5 Decreased viability GR00221-A-4 10.23 FUS NF1
6 Decreased viability GR00240-S-1 10.23 TAF15
7 Decreased viability GR00249-S 10.23 EWSR1 NF1
8 Decreased viability GR00301-A 10.23 IGF1R KIT
9 Decreased viability GR00342-S-2 10.23 IGF1R
10 Decreased viability GR00381-A-1 10.23 EYA3 WT1
11 Decreased viability GR00386-A-1 10.23 EWSR1 EYA3 NF1
12 Decreased viability GR00402-S-2 10.23 ENO2 ERG FEV IGF1R
13 Decreased sensitivity to paclitaxel GR00112-A-0 9.26 NF1 WT1
14 shRNA abundance <= 50% GR00343-S 9.23 ATF1 BAP1 ETV4 FEV FUS IGF1R
15 Increased the percentage of infected cells GR00402-S-1 8.65 CD99

MGI Mouse Phenotypes related to Ewing Sarcoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 ATF1 BAP1 ENO2 ERG ETV1 FEV
2 mortality/aging MP:0010768 10.13 ATF1 BAP1 ERG ETV1 ETV4 FEV
3 embryo MP:0005380 10.07 ATF1 BAP1 ERG ETV4 FLI1 FLII
4 muscle MP:0005369 9.86 BAP1 ETV1 ETV4 FLI1 IGF1R KIT
5 neoplasm MP:0002006 9.76 BAP1 ERG ETV4 FLI1 IGF1R KIT
6 nervous system MP:0003631 9.73 ATF1 ENO2 ERG ETV1 ETV4 FEV
7 respiratory system MP:0005388 9.23 BAP1 ENO2 ERG EYA3 IGF1R KIT

Drugs & Therapeutics for Ewing Sarcoma

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

(show top 50) (show all 232)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Treosulfan Approved, Investigational Phase 3 299-75-2 9296
2
Lenograstim Approved, Investigational Phase 3 135968-09-1
3
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
4
Thiotepa Approved, Investigational Phase 3 52-24-4 5453
5
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
6 Grape Approved Phase 3
7 Cranberry Approved, Investigational Phase 3
8
Daunorubicin Approved Phase 3 20830-81-3 30323
9
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
10
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
11
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
12
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
13
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
14
leucovorin Approved Phase 3 58-05-9 6006
15
Everolimus Approved Phase 3 159351-69-6 6442177 70789204
16
Isotretinoin Approved Phase 3 4759-48-2 5282379 5538
17
Fluorouracil Approved Phase 3 51-21-8 3385
18
Streptozocin Approved, Investigational Phase 3 18883-66-4 29327
19
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
20
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
21
Cyproheptadine Approved Phase 3 129-03-3 2913
22
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
23
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 444795 5538
24
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 68-26-8, 11103-57-4 445354
25
Camptothecin Experimental Phase 3 7689-03-4
26 Diphosphonates Phase 3
27 Immunosuppressive Agents Phase 3
28 Immunologic Factors Phase 3
29 Calcium, Dietary Phase 3
30 Keratolytic Agents Phase 3
31 Podophyllotoxin Phase 3 518-28-5
32 Adjuvants, Immunologic Phase 3
33 Antimetabolites Phase 3
34 Trace Elements Phase 3
35 Nutrients Phase 3
36 Micronutrients Phase 3
37 Antineoplastic Agents, Hormonal Phase 2, Phase 3
38 Vitamin B9 Phase 3
39 Folic Acid Antagonists Phase 3
40 Vitamin B Complex Phase 3
41 Folate Phase 3
42 Antidotes Phase 3
43 Vitamins Phase 3
44 Contraceptive Agents Phase 2, Phase 3
45 Triptorelin Pamoate Phase 2, Phase 3
46 retinol Phase 3
47 Retinol palmitate Phase 3
48 Hormones Phase 3
49 Hormone Antagonists Phase 3
50 Neurotransmitter Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 265)
# 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 Phase 3, Open Label, Multi-centre, Randomised Controlled International Study in Ewing Sarcoma Completed NCT00987636 Phase 3 Zoledronic acid;Busulfan;Treosulfan
5 Trial of Chemotherapy Intensification Through Compression in Ewing's Sarcoma and Related Tumors Completed NCT00006734 Phase 3 cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
6 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
7 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 Active, not recruiting NCT03495921 Phase 3 Irinotecan;Temozolomide
8 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
9 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
10 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
11 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
12 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
13 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 Active, not recruiting NCT00336024 Phase 3 etoposide;cyclophosphamide;cisplatin;carboplatin;thiotepa;methotrexate;leucovorin calcium;vincristine sulfate
14 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
15 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) Active, not recruiting NCT02246127 Phase 3 Drug: Everolimus;STZ-5FU
16 Non-functioning Pancreatic Neuroendocrine Tumors (NF-pNETs) in Multiple Endocrine Neoplasia Type 1 (MEN1) Treated With Somatostatin Analogs (SA) Versus NO Treatment - a Prospective, Randomized, Controlled Multicenter Study Not yet recruiting NCT02705651 Phase 3 Somatostatin-Analog
17 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
18 Post-operative Radiotherapy Randomization in Poor Responders Ewing's Sarcoma Patients Withdrawn NCT01734863 Phase 3
19 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
20 Anlotinib and Irinotecan for Advanced Ewing Sarcoma After Failure of Standard Multimodal Therapy Unknown status NCT03416517 Phase 1, Phase 2 Anlotinib;Irinotecan
21 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.
22 Pilot Study of Expanded , Activated Haploidentical Natural Killer Cell Infusions for Sarcomas Unknown status NCT02409576 Phase 1, Phase 2
23 Hematopoietic Stem Cell Transplantation From HLA Compatible Donor in Ewing Sarcomas and Soft Tissues Sarcomas Unknown status NCT00998361 Phase 2
24 Phase II Study of Vinorelbine + Cyclofosfamide Association Among Patients Reached of Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
25 Haploidentical Stem Cell Transplantation Followed by NK Cell Infusion in Patients With High-risk Solid Tumors Who Failed Autologous Stem Cell Transplantation Unknown status NCT01807468 Phase 2
26 A Phase II Single Arm Study Assessing Efficacy & Safety of Nivolumab Plus Ipilimumab in Nonresectable/Metastatic Sarcoma and Endometrial Carcinoma Patients With Somatic Deficient MMR as a Selection Tool Unknown status NCT02982486 Phase 2 Ipilimumab;Nivolumab
27 A Randomized, Placebo-Controlled Pilot Study of Genistein Supplementation in Pediatric Cancer Patients Receiving Myelosuppressive Chemotherapy Unknown status NCT02624388 Phase 2 Genistein;Placebo
28 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
29 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
30 A Phase II Clinical and Correlative Study of BAY 43-9006 (Sorafenib) IND 69,896 in Sarcoma Completed NCT00330421 Phase 2 sorafenib tosylate
31 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
32 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
33 Phase II Multicenter, Open-label, Clinical and Pharmacokinetic Study of Zalypsis® (PM00104) in Patients With Unresectable Locally Advanced and/or Metastatic Ewing Family of Tumors (EFT) Progressing After at Least One Prior Line of Chemotherapy Completed NCT01222767 Phase 2 Zalypsis
34 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
35 A Phase 1/Phase 2 Study Of CP-751,871 In Patients With Relapsed And/Or Refractory Ewing's Sarcoma Family Of Tumors Completed NCT00560235 Phase 1, Phase 2 CP-751,871
36 A Randomized Phase II Study of Bevacizumab (NSC 704865) Combined With Vincristine, Topotecan and Cyclophosphamide in Patients With First Recurrent Ewing Sarcoma Completed NCT00516295 Phase 2 topotecan hydrochloride;vincristine sulfate;cyclophosphamide
37 A Pilot Study of Low-Dose Antiangiogenic Chemotherapy in Combination With Standard Multiagent Chemotherapy for Patients With Newly Diagnosed Metastatic Ewing Sarcoma Family of Tumors Completed NCT00061893 Phase 2 celecoxib;cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;vinblastine sulfate;vincristine sulfate;MESNA;Filgrastim
38 A Phase II Study Of Trabectedin (ET-743, Yondelis®) in Children With Recurrent Rhabdomyosarcoma, Ewing Sarcoma, or Nonrhabdomyosarcomatous Soft Tissue Sarcomas Completed NCT00070109 Phase 2 trabectedin
39 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
40 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
41 A Phase 2 Study of AMG 479 in Relapsed or Refractory Ewing's Family Tumor and Desmoplastic Small Round Cell Tumors Completed NCT00563680 Phase 2 AMG 479
42 A Pilot Study of Tumor-Specific Peptide Vaccination and IL-2 With or Without Autologous T Cell Transplantation in Recurrent Pediatric Sarcomas Completed NCT00001564 Phase 2 EF-1 Peptide;EF-2 Peptide;PXFK Peptide;E7 Peptide;IL-2;IL-4;GM-CSF;CD40 Ligand
43 A Two-part Phase IIb Trial of Vigil (Bi-shRNAfurin and GMCSF Augmented Autologous Tumor Cell Immunotherapy) in Ewing's Sarcoma Completed NCT02511132 Phase 2 Temozolomide;Irinotecan
44 Aerosol Liposomal 9-Nitro-20(S)-Camptothecin (L9-NC) and Temozolomide in Ewing's Sarcoma and Other Solid Tumors With Lung Involvement Completed NCT00492141 Phase 1, Phase 2 Temozolomide;L9-NC
45 A Pilot Study of Autologous T-Cell Transplantation With Vaccine Driven Expansion of Anti-Tumor Effectors After Cytoreductive Therapy in Metastatic Pediatric Sarcomas Completed NCT00001566 Phase 2 indinavir sulfate
46 Phase II Study of the PARP Inhibitor, Olaparib, in Adult Patients With Recurrent/Metastatic Ewing's Sarcoma Following Failure of Prior Chemotherapy Completed NCT01583543 Phase 2 Olaparib
47 A Phase 1/2 Combined Dose Ranging and Randomized, Open-label, Comparative Study of the Efficacy and Safety of Plerixafor in Addition to Standard Regimens for Mobilization of Haematopoietic Stem Cells Into Peripheral Blood, and Subsequent Collection by Apheresis, Versus Standard Mobilization Regimens Alone in Pediatric Patients, Aged 1 to <18 Years, With Solid Tumours Eligible for Autologous Transplants. Completed NCT01288573 Phase 1, Phase 2 plerixafor;plerixafor;plerixafor
48 Phase 2, Open-label, Uncontrolled, Multicenter and Prospective Study of Intensive Chemotherapy, Surgery and Radiotherapy to Treat Ewing's Sarcoma in Children and Young Adults Completed NCT01696669 Phase 2 Chemotherapy
49 Phase II Trial of Linsitinib (Anti-IGF-1R/IR) in Patients With Relapsed and/or Refractory Ewing Sarcoma Completed NCT02546544 Phase 2 Linsitinib
50 Phase II Trial of Gleevec (STI571) in Therapy of Ewing's Family of Tumors and Desmoplastic Small Round Cell Tumors Completed NCT00062205 Phase 2 imatinib mesylate

Search NIH Clinical Center for Ewing Sarcoma

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Bone Marrow, Eye, Kidney, Myeloid, T Cells

Publications for Ewing Sarcoma

Articles related to Ewing Sarcoma:

(show top 50) (show all 4118)
# Title Authors PMID Year
1
Ewing sarcoma family of tumors. 57 61 54
16096383 2005
2
EWS-FLI1 increases transcription to cause R-loops and block BRCA1 repair in Ewing sarcoma. 57 61
29513652 2018
3
Prognostic significance of p16 INK4a alteration for Ewing sarcoma: a meta-analysis. 61 57
17661343 2007
4
Esthesioneuroblastoma is not a member of the primitive peripheral neuroectodermal tumour-Ewing's group. 57 61
10574242 1999
5
A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1. 54 57
7700648 1995
6
The neuroepithelioma breakpoint on chromosome 22 is proximal to the meningioma locus. 61 57
2303258 1990
7
Comparative mapping of the constitutional and tumor-associated 11;22 translocations. 61 57
2741943 1989
8
Translocation t(11;22) in esthesioneuroblastoma. 57 61
3478125 1987
9
Comparison of constitutional and tumor-associated 11;22 translocations: nonidentical breakpoints on chromosomes 11 and 22. 57 61
3461479 1986
10
Cytogenetic characterization of selected small round cell tumors of childhood. 57 61
3004699 1986
11
Translocation of oncogene c-sis from chromosome 22 to chromosome 11 in a Ewing sarcoma-derived cell line. 61 57
2983195 1985
12
Chromosome translocation in peripheral neuroepithelioma. 57 61
6749231 1984
13
A patient with two Ewing's sarcomas with distinct EWS fusion transcripts. 57
15044653 2004
14
EWS-FLI1 and EWS-ERG gene fusions are associated with similar clinical phenotypes in Ewing's sarcoma. 57
10561219 1999
15
Differential transactivation by alternative EWS-FLI1 fusion proteins correlates with clinical heterogeneity in Ewing's sarcoma. 57
10197607 1999
16
EWS-FLI1 fusion transcripts identified in patients with typical neuroblastoma. 57
9135495 1997
17
EWS-Fli1 antisense oligodeoxynucleotide inhibits proliferation of human Ewing's sarcoma and primitive neuroectodermal tumor cells. 57
9005992 1997
18
Overexpression of the pseudoautosomal gene MIC2 in Ewing's sarcoma and peripheral primitive neuroectodermal tumor. 57
1695726 1990
19
Chromosomes in Ewing's sarcoma. I. An evaluation of 85 cases of remarkable consistency of t(11;22)(q24;q12). 57
3163261 1988
20
Chromosomes in Ewing's sarcoma. II. Nonrandom additional changes, trisomy 8 and der(16)t(1;16). 57
3163262 1988
21
t(11;22) and other chromosomal rearrangements in Ewing's sarcoma. 57
3467113 1986
22
Chromosomal abnormalities in secondary Ewing's sarcoma. 57
6148551 1984
23
Translocation involving chromosome 22 in Ewing's sarcoma. A cytogenetic study of four fresh tumors. 57
6713357 1984
24
Chromosome study of Ewing's sarcoma (ES) cell lines. Consistency of a reciprocal translocation t(11;22)(q24;q12). 57
6713356 1984
25
Neuroblastoma and the differential diagnosis of small-, round-, blue-cell tumors. 57
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. 61 54
20526094 2010
27
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
28
Central nervous system primitive neuroectodermal tumors: a clinicopathologic and genetic study of 33 cases. 54 61
19725831 2010
29
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. 61 54
20332468 2010
30
Specificity of fusion genes in adipocytic tumors. 61 54
20332486 2010
31
Identification of a tripartite import signal in the Ewing Sarcoma protein (EWS). 54 61
19879242 2009
32
Diagnostic utility of nestin expression in pediatric tumors in the region of the kidney. 54 61
19417621 2009
33
Critical signaling pathways in bone sarcoma: candidates for therapeutic interventions. 61 54
19840522 2009
34
Immunohistochemical evaluation of FLI-1 in acute lymphoblastic lymphoma (ALL): a potential diagnostic pitfall. 61 54
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
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. 61 54
18676850 2008
39
Rapamycin inhibits F-actin reorganization and phosphorylation of focal adhesion proteins. 61 54
18504440 2008
40
Coupled alteration of transcription and splicing by a single oncogene: boosting the effect on cyclin D1 activity. 61 54
18677114 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. 61 54
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. 61 54
18347058 2008
44
Alteration of cyclin D1 transcript elongation by a mutated transcription factor up-regulates the oncogenic D1b splice isoform in cancer. 61 54
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. 61 54
17912356 2007
47
Expression of MYCN in pediatric synovial sarcoma. 61 54
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 Position
1 NF1 NM_001042492.3(NF1):c.7186A>T (p.Lys2396Ter) SNV Pathogenic 690368 rs1597851489 GRCh37: 17:29670150-29670150
GRCh38: 17:31343132-31343132
2 ERG , EWSR1 t(21;22)(q21;q12) Translocation Pathogenic 690369 GRCh37:
GRCh38:
3 NF1 NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter) SNV Pathogenic 185082 rs772295894 GRCh37: 17:29665757-29665757
GRCh38: 17:31338739-31338739
4 BAP1 NM_004656.4(BAP1):c.256-3C>A SNV Likely pathogenic 472695 rs752536342 GRCh37: 3:52442096-52442096
GRCh38: 3:52408080-52408080
5 CDK4 , TSPAN31 NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) SNV Uncertain significance 127520 rs201617914 GRCh37: 12:58143008-58143008
GRCh38: 12:57749225-57749225
6 TSC1 NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) SNV Uncertain significance 41690 rs118203532 GRCh37: 9:135781505-135781505
GRCh38: 9:132906118-132906118
7 EWSR1 NM_005243.4(EWSR1):c.582-9C>G SNV Benign 773619 rs189387468 GRCh37: 22:29682903-29682903
GRCh38: 22:29286914-29286914

Cosmic variations for Ewing Sarcoma:

9 (show top 50) (show all 122)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM133282411 IDH2 bone,femur,Ewings sarcoma-peripheral primitive neuroectodermal tumour,NS c.359G>A p.R120K 15:90088606-90088606 12
2 COSM136793275 IDH2 bone,femur,Ewings sarcoma-peripheral primitive neuroectodermal tumour,NS c.208-104G>A p.? 15:90088606-90088606 12
3 COSM89230104 IDH2 bone,femur,Ewings sarcoma-peripheral primitive neuroectodermal tumour,NS c.515G>A p.R172K 15:90088606-90088606 12
4 COSM116002788 CDKN2A bone,pelvis,Ewings sarcoma-peripheral primitive neuroectodermal tumour,NS c.85C>T p.R29* 9:21971121-21971121 12
5 COSM119229461 CDKN2A bone,pelvis,Ewings sarcoma-peripheral primitive neuroectodermal tumour,NS c.238C>T p.R80* 9:21971121-21971121 12
6 COSM138033912 CDKN2A bone,pelvis,Ewings sarcoma-peripheral primitive neuroectodermal tumour,NS c.85C>T p.R29* 9:21971121-21971121 12
7 COSM138521235 CDKN2A bone,pelvis,Ewings sarcoma-peripheral primitive neuroectodermal tumour,NS c.238C>T p.R80* 9:21971121-21971121 12
8 COSM120376601 CDKN2A bone,pelvis,Ewings sarcoma-peripheral primitive neuroectodermal tumour,NS c.85C>T p.R29* 9:21971121-21971121 12
9 COSM121125164 CDKN2A bone,pelvis,Ewings sarcoma-peripheral primitive neuroectodermal tumour,NS c.85C>T p.R29* 9:21971121-21971121 12
10 COSM139315988 CDKN2A bone,pelvis,Ewings sarcoma-peripheral primitive neuroectodermal tumour,NS c.281C>T p.P94L 9:21971121-21971121 12
11 COSM122107657 CDKN2A bone,pelvis,Ewings sarcoma-peripheral primitive neuroectodermal tumour,NS c.85C>T p.R29* 9:21971121-21971121 12
12 COSM129326012 CDKN2A bone,pelvis,Ewings sarcoma-peripheral primitive neuroectodermal tumour,NS c.281C>T p.P94L 9:21971121-21971121 12
13 COSM86260992 CDKN2A bone,pelvis,Ewings sarcoma-peripheral primitive neuroectodermal tumour,NS c.238C>T p.R80* 9:21971121-21971121 12
14 COSM106056882 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
15 COSM111763021 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
16 COSM144313682 TP53 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 6
17 COSM105659131 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
18 COSM93187807 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
19 COSM143375075 TP53 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 6
20 COSM105624912 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
21 COSM122766413 TP53 soft tissue,upper leg,sarcoma,NS c.103C>T p.Q35* 17:7675113-7675113 6
22 COSM145021980 TP53 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 6
23 COSM93215390 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
24 COSM143182864 TP53 soft tissue,upper leg,sarcoma,NS c.22C>T p.Q8* 17:7675113-7675113 6
25 COSM144334467 TP53 soft tissue,upper leg,sarcoma,NS c.382C>T p.Q128* 17:7675113-7675113 6
26 COSM143972614 TP53 soft tissue,upper leg,sarcoma,NS c.22C>T p.Q8* 17:7675113-7675113 6
27 COSM87902864 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
28 COSM112257156 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
29 COSM142564162 TP53 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 6
30 COSM144655779 TP53 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 6
31 COSM142840367 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
32 COSM122737959 TP53 soft tissue,upper leg,sarcoma,NS c.245A>G p.H82R 17:7674890-7674890 6
33 COSM144111084 TP53 soft tissue,upper leg,sarcoma,NS c.22C>T p.Q8* 17:7675113-7675113 6
34 COSM121881087 TP53 soft tissue,upper leg,sarcoma,NS c.245A>G p.H82R 17:7674890-7674890 6
35 COSM142860117 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
36 COSM144089819 TP53 soft tissue,upper leg,sarcoma,NS c.164A>G p.H55R 17:7674890-7674890 6
37 COSM144682712 TP53 soft tissue,upper leg,sarcoma,NS c.382C>T p.Q128* 17:7675113-7675113 6
38 COSM143159971 TP53 soft tissue,upper leg,sarcoma,NS c.164A>G p.H55R 17:7674890-7674890 6
39 COSM122275322 TP53 soft tissue,upper leg,sarcoma,NS c.245A>G p.H82R 17:7674890-7674890 6
40 COSM144041526 TP53 soft tissue,upper leg,sarcoma,NS c.466C>T p.Q156* 17:7675113-7675113 6
41 COSM142592590 TP53 soft tissue,upper leg,sarcoma,NS c.382C>T p.Q128* 17:7675113-7675113 6
42 COSM106084061 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
43 COSM112284809 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
44 COSM143401670 TP53 soft tissue,upper leg,sarcoma,NS c.382C>T p.Q128* 17:7675113-7675113 6
45 COSM122302302 TP53 soft tissue,upper leg,sarcoma,NS c.103C>T p.Q35* 17:7675113-7675113 6
46 COSM143947426 TP53 soft tissue,upper leg,sarcoma,NS c.164A>G p.H55R 17:7674890-7674890 6
47 COSM144017515 TP53 soft tissue,upper leg,sarcoma,NS c.608A>G p.H203R 17:7674890-7674890 6
48 COSM121910283 TP53 soft tissue,upper leg,sarcoma,NS c.103C>T p.Q35* 17:7675113-7675113 6
49 COSM111790424 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
50 COSM145045823 TP53 soft tissue,upper leg,sarcoma,NS c.382C>T p.Q128* 17:7675113-7675113 6

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 NBPF10 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 FCRLA Ewing''s sarcoma
11 27410 1 208096981 208097464 Gain UTP25 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 CENPS 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 CEND1 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 11.65 WT1 TAF15 IGF1R FUS FLI1 FEV
3 11.31 NCAM1 KIT BAP1

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 chromatin GO:0000785 9.5 WT1 FLI1 FEV ETV4 ETV1 ERG
2 nucleus GO:0005634 9.47 WT1 TAF15 NF1 FUS FLII FLI1

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

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.73 FLI1 FEV EYA3 ETV4 ETV1 ERG
2 regulation of transcription by RNA polymerase II GO:0006357 9.61 WT1 KIT FUS FLI1 FEV ETV4
3 regulation of transcription, DNA-templated GO:0006355 9.32 WT1 TAF15 FUS FLI1 FEV EWSR1
4 megakaryocyte development GO:0035855 9.16 KIT FLI1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 WT1 TAF15 FUS FLI1 FEV ETV4
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.87 WT1 FLI1 FEV ETV4 ETV1 ERG
3 sequence-specific double-stranded DNA binding GO:1990837 9.77 FLI1 FEV ETV4 ETV1 ERG
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.63 WT1 FLI1 ETV4 ETV1 ERG ATF1
5 DNA-binding transcription factor activity GO:0003700 9.5 WT1 FLI1 FEV ETV4 ETV1 ERG
6 sequence-specific DNA binding GO:0043565 9.17 WT1 FLI1 FEV ETV4 ETV1 ERG

Sources for Ewing Sarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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