MCID: EWN003
MIFTS: 59

Ewing Sarcoma malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Cancer diseases categories

Aliases & Classifications for Ewing Sarcoma

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet, 34MESH via Orphanet
See all sources

Aliases & Descriptions for Ewing Sarcoma:

Name: Ewing Sarcoma 46 9 21 48
Neuroepithelioma 46 42 44 48 61
Ewing Sarcoma/peripheral Primitive Neuroectodermal Tumor 61
Tumor of the Ewing Family 21
Ewing Family of Tumors 21
 
Neuroectodermal Tumors 61
Ewing's Sarcoma 21
Ewings Sarcoma 61
Ewing's Tumor 21
Ewing Tumor 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
ewing sarcoma:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Childhood
neuroepithelioma:
Inheritance: Not applicable; Age of onset: Childhood


External Ids:

OMIM46 612219
Orphanet48 319, 2677
ICD10 via Orphanet26 C40, C41
UMLS via Orphanet62 C0027828
MESH via Orphanet34 D018241

Summaries for Ewing Sarcoma

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Genetics Home Reference:21 Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.

MalaCards based summary: Ewing Sarcoma, also known as neuroepithelioma, is related to neuroectodermal tumor and sarcoma, and has symptoms including somatic mutationand ewing's sarcoma. An important gene associated with Ewing Sarcoma is EWSR1 (EWS RNA-binding protein 1), and among its related pathways are B Cell Receptor Signaling Pathway and Transcriptional misregulation in cancer. The drugs cyclophosphamide and etoposide and the compounds askin and orcein have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and adrenal gland, and related mouse phenotypes are muscle and tumorigenesis.

OMIM:46 The Ewing sarcoma family of tumors (primitive neuroectodermal tumors; PNET) comprise morphologically heterogeneous... (612219) more...

Related Diseases for Ewing Sarcoma

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

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1neuroectodermal tumor32.1ENO2, EWSR1, FLI1
2sarcoma31.5CD99, ENO2, ETV1, MUC1, VIM, FLI1
3desmoplastic small round cell tumor31.3MUC1, EWSR1, DES
4extraosseous ewing's sarcoma31.2CD99, EWSR1
5peripheral primitive neuroectodermal tumor31.1EWSR1, FLI1, ETV1, ETV4, ENO2, CD99
6ewing's family of tumors31.1CD99, FLI1, EWSR1, ENO2
7olfactory neuroblastoma31.0FLI1, ENO2, CD99
8chondrosarcoma30.9EWSR1, DDIT3, DES, ENO2, VIM, MUC1
9gastrointestinal stromal tumor30.8DES, ENO2, VIM
10mesenchymal chondrosarcoma30.7DES, MUC1, VIM
11leukemia30.7PTPRC, EWSR1, DDIT3, ERG, CD99, FLI1
12rhabdomyosarcoma30.7CD99, ENO2, VIM, FLI1, PTPRC, DES
13merkel cell carcinoma30.7ENO2, MUC1
14lymphoblastic lymphoma30.7ENO2, CD99, FLI1, PTPRC
15malignant peripheral nerve sheath tumor30.4VIM, MUC1
16melanoma30.3DDIT3, DES, EWSR1, PTPRC, ENO2, FLI1
17prostate cancer30.0ETV1, FLI1, ENO2, DDIT3, PTPRC, ETV4
18extraskeletal ewing sarcoma10.8
19epulis10.6ENO2
20syringoma10.6MUC1
21adenomatoid tumor10.6VIM
22infantile myofibromatosis10.5DES
23fibrous meningioma10.5MUC1
24neurilemmoma10.5ENO2
25hidradenoma10.5MUC1
26connective tissue benign neoplasm10.5EWSR1, FLI1
27cystadenocarcinoma10.5MUC1
28neuroblastoma10.5
29subependymal giant cell astrocytoma10.5ENO2
30glomus tumor10.5DES, VIM
31inflammatory myofibroblastic tumor10.5DES, PTPRC
32epithelioid leiomyosarcoma10.5VIM, DES
33clear cell ependymoma10.4VIM, MUC1
34pseudosarcomatous fibromatosis10.4DES, VIM
35myxoid liposarcoma10.4DDIT3, EWSR1, ERG
36myoepithelioma10.4EWSR1, VIM
37epithelioid sarcoma10.4MUC1, VIM
38embryonal rhabdomyosarcoma10.4DES, EWSR1, PTPRC
39fibrous histiocytoma10.4DES, VIM
40extraosseous ewings sarcoma-primitive neuroepithelial tumor10.4
41secretory meningioma10.4MUC1, VIM
42endometrial stromal sarcoma10.4DES, VIM
43alveolar soft-part sarcoma10.4ENO2, VIM, DES
44spindle cell carcinoma10.4DES, MUC1, VIM
45rhabdomyosarcoma 2, alveolar10.4DES, ENO2
46granular cell tumor10.4DES, VIM, ENO2
47spindle cell sarcoma10.4DES, VIM, MUC1
48angiosarcoma10.4FLI1, VIM, MUC1
49dermatofibrosarcoma protuberans10.4DES, VIM, MUC1
50sex cord-gonadal stromal tumor10.4DES, MUC1, VIM

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



Diseases related to ewing sarcoma

Symptoms for Ewing Sarcoma

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Clinical features from OMIM:

612219

HPO human phenotypes related to Ewing Sarcoma:

id Description Frequency HPO Source Accession
1 somatic mutation HP:0001428
2 ewing's sarcoma HP:0012254

Drugs & Therapeutics for Ewing Sarcoma

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Drug clinical trials:

Search ClinicalTrials for Ewing Sarcoma

Search NIH Clinical Center for Ewing Sarcoma

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Ewing Sarcoma

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Anatomical Context for Ewing Sarcoma

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MalaCards organs/tissues related to Ewing Sarcoma:

31
Bone, Kidney, Adrenal gland, Thyroid, Breast, B cells, Bone marrow, Brain, Retina, Ovary, Uterus, Prostate, Testes, Myeloid

Animal Models for Ewing Sarcoma or affiliated genes

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MGI Mouse Phenotypes related to Ewing Sarcoma:

35 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.5ETV4, ETV1, VIM, FLI1, EWSR1, DES
2MP:00020069.3EWSR1, MAP3K8, ETV4, MUC1, FLI1, PTPRC
3MP:00053809.2NKX2-2, VIM, FLI1, SMARCA5, ERG, ETV4
4MP:00053979.2PTPRC, FLI1, VIM, MAP3K8, EWSR1, ERG
5MP:00028739.1NKX2-2, ETV1, MUC1, PTPRC, EWSR1, ERG
6MP:00053869.0DDIT3, DES, EYA3, VIM, ETV1, ETV4
7MP:00053788.9EWSR1, PTPRC, EYA3, FLI1, VIM, ETV1
8MP:00053768.9PTPRC, FEV, VIM, MAP3K8, DDIT3, MUC1
9MP:00036318.7ERG, NKX2-2, ETV4, ETV1, VIM, FLI1
10MP:00053848.4DDIT3, NKX2-2, MAP3K8, ETV1, VIM, FLI1
11MP:00107688.4DES, ERG, NKX2-2, MAP3K8, ETV4, ETV1

Publications for Ewing Sarcoma

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Articles related to Ewing Sarcoma:

(show top 50)    (show all 263)
idTitleAuthorsYear
1
Primary cutaneous and subcutaneous Ewing sarcoma. (25894676)
2015
2
An essential role for Ewing sarcoma gene (EWS) in early white adipogenesis. (25407167)
2014
3
Intracranial ewings sarcoma/peripheral primitive neuroectodermal tumor. (25237951)
2014
4
DKK2 mediates osteolysis, invasiveness, and metastatic spread in Ewing sarcoma. (23204234)
2013
5
Ewing Sarcoma Protein: A Key Player in Human Cancer. (24082883)
2013
6
Genomic EWS-FLI1 fusion sequences in Ewing sarcoma resemble breakpoint characteristics of immature lymphoid malignancies. (23441188)
2013
7
The strength of small: improved targeting of insulin-like growth factor-1 receptor (IGF-1R) with F(ab')a88-R1507 fragments in Ewing sarcomas. (23664098)
2013
8
sCD30 and sCD40L Detection in Patients with Osteosarcoma, Chondrosarcoma and Ewing Sarcoma. (24375064)
2013
9
Suppression of FOXO1 is responsible for a growth regulatory repressive transcriptional sub-signature of EWS-FLI1 in Ewing sarcoma. (23995784)
2013
10
High-dose chemotherapy and autologous peripheral blood stem cell transplantation in the treatment of children and adolescents with Ewing sarcoma family of tumors. (24223602)
2013
11
ERBB4 confers metastatic capacity in Ewing sarcoma. (23681745)
2013
12
A TARBP2-dependent miRNA expression profile underlies cancer stem cell properties and provides candidate therapeutic reagents in Ewing sarcoma. (22698405)
2012
13
Phase II study of sequential gemcitabine followed by docetaxel for recurrent Ewing sarcoma, osteosarcoma, or unresectable or locally recurrent chondrosarcoma: results of Sarcoma Alliance for Research Through Collaboration Study 003. (22363068)
2012
14
1q gain and CDT2 overexpression underlie an aggressive and highly proliferative form of Ewing sarcoma. (21822310)
2012
15
A phase 2 trial of trabectedin in children with recurrent rhabdomyosarcoma, Ewing sarcoma and non-rhabdomyosarcoma soft tissue sarcomas: a report from the Children's Oncology Group. (22088484)
2012
16
Evaluation of polymorphisms in EWSR1 and risk of Ewing sarcoma: a report from the Childhood Cancer Survivor Study. (21793187)
2012
17
Radiation recall myositis in pediatric Ewing sarcoma. (22021129)
2012
18
Oncostatin M is a growth factor for Ewing sarcoma. (22982441)
2012
19
Targeting the EWSR1-FLI1 oncogene-induced protein kinase PKC-I^ abolishes ewing sarcoma growth. (22930730)
2012
20
BMI-1 suppresses contact inhibition and stabilizes YAP in Ewing sarcoma. (21170084)
2011
21
Connexin 43 is a potential prognostic biomarker for ewing sarcoma/primitive neuroectodermal tumor. (21647307)
2011
22
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. (20332468)
2010
23
Dynamic subcellular localization of the Ewing sarcoma proto-oncoprotein and its association with and stabilization of microtubules. (19133275)
2009
24
Simultaneous inhibition of mitogen-activated protein kinase and phosphatidylinositol 3-kinase pathways augment the sensitivity to actinomycin D in Ewing sarcoma. (19205734)
2009
25
Identification of a tripartite import signal in the Ewing Sarcoma protein (EWS). (19879242)
2009
26
Retrospective comparison of neutropenia in children with Ewing sarcoma treated with chemotherapy and granulocyte colony-stimulating factor (G-CSF) or pegylated G-CSF. (20110048)
2009
27
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. (18676850)
2008
28
Expression of embryonic lethal abnormal vision (ELAV)-like protein HuR and cyclooxygenase-2 (COX-2) in Ewing sarcoma. (18705402)
2008
29
Extraskeletal Ewing sarcoma of the abdominal wall. (18818133)
2008
30
Therapy-related myelodysplasia and acute myeloid leukemia after Ewing sarcoma and primitive neuroectodermal tumor of bone: A report from the Children's Oncology Group. (16985182)
2007
31
Microdeletions in 9p21.3 induce false negative results in CDKN2A FISH analysis of Ewing sarcoma. (18160777)
2007
32
Evidence for activation of KIT, PDGFRalpha, and PDGFRbeta receptors in the Ewing sarcoma family of tumors. (17342771)
2007
33
Spinal epidural extraskeletal Ewing sarcoma in an adolescent boy: a case report. (16517542)
2006
34
Ewing sarcoma/primitive neuroectodermal tumor of the kidney: a case report. Diagnosed by immunohistochemistry and molecular analysis. (17126256)
2006
35
Ewing sarcoma family of tumors. (16096383)
2005
36
Intracranial Ewing sarcoma. (15929128)
2005
37
Expression of the EWS/FLI-1 oncogene in murine primary bone-derived cells Results in EWS/FLI-1-dependent, ewing sarcoma-like tumors. (16204038)
2005
38
Wnt/Frizzled signaling in Ewing sarcoma. (15266408)
2004
39
Arrangement of chromosome 11 and 22 territories, EWSR1 and FLI1 genes, and other genetic elements of these chromosomes in human lymphocytes and Ewing sarcoma cells. (12522555)
2003
40
2-Methoxyestradiol induces apoptosis in Ewing sarcoma cells through mitochondrial hydrogen peroxide production. (12730670)
2003
41
Evidence of neural differentiation in a case of post-therapy primitive neuroectodermal tumor/Ewing sarcoma of bone. (12883251)
2003
42
The epidermal growth factor receptor HER2 is not a major therapeutic target in Ewing sarcoma. (12794524)
2003
43
Pilot trial of tumor-specific peptide vaccination and continuous infusion interleukin-2 in patients with recurrent Ewing sarcoma and alveolar rhabdomyosarcoma: an inter-institute NIH study. (11836714)
2002
44
Lack of matrix metalloproteinase (MMP)-1 and -3 expression in Ewing sarcoma may be due to loss of accessibility of the MMP regulatory element to the specific fusion protein in vivo. (12054564)
2002
45
Immunohistochemical and ultrastructural investigation of neural differentiation in Ewing sarcoma/PNET of bone and soft tissues. (11465478)
2001
46
Exposure on cell surface and extensive arginine methylation of Ewing sarcoma (EWS) protein. (11278906)
2001
47
Association between autosomal dominant optic atrophy and Ewing sarcoma. (10598674)
1999
48
Yeast artificial chromosome cloning of 3.2 megabases within chromosomal band 11q24 closely linking c-ets 1 and Fli-1 and encompassing the Ewing sarcoma breakpoint. (7959760)
1994
49
Detection of EWS-/FLI-1 gene fusion transcripts by RT-PCR as a tool in the diagnosis of tumors of the Ewing sarcoma group]. (7533989)
1994
50
Fine mapping of the long arm of human chromosome 11 by in situ hybridization using different translocations, including the t(11;22) of Ewing sarcoma. (2265556)
1990

Variations for Ewing Sarcoma

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Expression for genes affiliated with Ewing Sarcoma

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Search GEO for disease gene expression data for Ewing Sarcoma.

Pathways for genes affiliated with Ewing Sarcoma

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
9.8MAP3K8, VIM, PTPRC
29.3ERG, DDIT3, EWSR1, FEV, FLI1, ETV1

Compounds for genes affiliated with Ewing Sarcoma

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

(show all 45)
idCompoundScoreTop Affiliating Genes
1askin4410.4EWSR1, ENO2
2orcein4410.4DES, VIM
3monochloroacetic acid4410.4VIM, PTPRC
4eosin4410.4VIM, MUC1
5periodate4410.4MUC1, PTPRC
6reticulin4410.3MUC1, DES, VIM
7mucicarmine4410.3VIM, DES, MUC1
8fluorochrome4410.3PTPRC, VIM
9progestin4410.2DES, VIM, MUC1
10biotin44 24 1112.2DES, MUC1, VIM
11adriamycin4410.2MUC1, VIM, DES
12b 7234410.1VIM, DES, PTPRC, MUC1
13dihydrotestosterone44 28 24 1113.1DES, VIM, MUC1
14sialic acid4410.1MUC1, ENO2, PTPRC
15s 1004410.1MUC1, VIM, DES, ENO2
16toluidine4410.1PTPRC, ENO2, VIM, DES
17ganglioside4410.0PTPRC, VIM, ENO2, DES
18methionine4410.0DDIT3, VIM, DES, PTPRC
19dmso4410.0PTPRC, MUC1, VIM, ENO2
20[alcl]4410.0MUC1, PTPRC
21bromodeoxyuridine4410.0ENO2, VIM, DES, DDIT3
22actinomycin d4410.0DDIT3, VIM, DES, MUC1
23cyclic amp44 2411.0DES, ETV4, MUC1, VIM, EWSR1
2412-o-tetradecanoylphorbol 13-acetate4410.0VIM, MUC1, ETV4, PTPRC, DES
25hematoxylin449.9VIM, PTPRC, MUC1, ENO2, DES
26glutamine449.9ENO2, VIM, EWSR1, DDIT3
27hyaluronic acid44 2410.9MUC1, ENO2, DES, PTPRC, VIM
28formaldehyde44 2410.9MUC1, VIM, DES, ENO2, PTPRC
29glycogen44 2410.8MUC1, VIM, ENO2, PTPRC, DES
30thymidine44 2410.8DES, MUC1, ETV4, ENO2
31acth449.8MUC1, ENO2, PTPRC
32iron44 2410.8VIM, DES, DDIT3, ENO2
33phalloidin449.8DES, VIM
34cisplatin44 50 60 1112.7DDIT3, ENO2, ETV4, MUC1
35nitric oxide44 24 1111.7ENO2, ETV4, DDIT3, MUC1, DES
36creatinine449.7DES, ENO2, MUC1, VIM
37progesterone44 28 60 24 1113.7ENO2, ETV4, MUC1, VIM, PTPRC, DES
38estrogen449.7ETV4, DES, PTPRC, VIM, MUC1, ENO2
39heparin44 28 24 1112.6VIM, ENO2, DES, PTPRC
40retinoic acid44 2410.6MUC1, EWSR1, ENO2, DDIT3, DES, VIM
41paraffin449.5PTPRC, CD99, DES, EWSR1, VIM, MUC1
42testosterone44 60 24 1112.5VIM, ETV1, ENO2, PTPRC, DES, DDIT3
43vegf449.4DES, ENO2, ETV4, DDIT3, CD99, MUC1
44tyrosine449.3ETV1, DDIT3, DES, EWSR1, PTPRC, ENO2
45serine449.3ETV4, ETV1, MUC1, VIM, FLI1, PTPRC

GO Terms for genes affiliated with Ewing Sarcoma

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

idNameGO IDScoreTop Affiliating Genes
1neuron fate specificationGO:004866510.0NKX2-2, FEV
2release of sequestered calcium ion into cytosolGO:00512099.8DDIT3, PTPRC
3positive regulation of transcription, DNA-templatedGO:00458939.7ETV4, ETV1, FEV, DDIT3
4cell differentiationGO:00301549.7FEV, FLI1, ETV1, ETV4, ERG
5transcription from RNA polymerase II promoterGO:00063669.7FEV, FLI1, ETV1, ETV4, ERG
6regulation of transcription from RNA polymerase II promoterGO:00063579.5ERG, ETV4, ETV1, FLI1, FEV, SMARCA5

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding RNA polymerase II transcription factor activityGO:00009819.7ERG, ETV4, ETV1, FLI1, FEV
2sequence-specific DNA binding transcription factor activityGO:00037009.5FEV, FLI1, ETV1, NKX2-2, DDIT3
3sequence-specific DNA bindingGO:00435659.1DDIT3, FEV, FLI1, ETV1, ETV4, NKX2-2
4protein bindingGO:00055158.0DDIT3, DES, EWSR1, SMARCA5, PTPRC, EYA3

Sources for Ewing Sarcoma

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet