PPNET
MCID: PRP025
MIFTS: 62

Peripheral Primitive Neuroectodermal Tumor (PPNET) malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Cancer diseases categories
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Summaries for Peripheral Primitive Neuroectodermal Tumor

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43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 33MalaCards
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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: Peripheral Primitive Neuroectodermal Tumor, also known as ewing sarcoma, is related to sarcoma and neuroepithelioma. An important gene associated with Peripheral Primitive Neuroectodermal Tumor is EWSR1 (EWS RNA-binding protein 1), and among its related pathways are EGFR Signaling Pathway and Prostate cancer. The drugs cyclophosphamide and etoposide and the compounds indium and s 100 have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and kidney, and related mouse phenotypes are tumorigenesis and muscle.

NIH Rare Diseases:43 Ewing's 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's sarcoma is unknown. last updated: 6/4/2009

Description from OMIM:47 612219

Aliases & Classifications for Peripheral Primitive Neuroectodermal Tumor

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 36MESH via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
ewing sarcoma:
Inheritance: Sporadic; Age of onset: Childhood
neuroepithelioma:
Inheritance: Sporadic; Age of onset: Childhood


Aliases & Descriptions:

peripheral primitive neuroectodermal tumor 8 10 49
ewing sarcoma 8 9 43 21 47 49
ewings sarcoma 8 45 62
ewing's tumor 8 43 21
ewings sarcoma-primitive neuroectodermal tumor 8 62
ewing's sarcoma 43 21
ewing tumor 43 21
ewing's sarcoma/peripheral primitive neuroectodermal tumor 8
neuroectodermal tumor, primitive 62
pnet of thoracopulmonary region 8
tumor of the ewing family 21
ewing family of tumors 21
neuroectodermal tumors 62
sarcoma, ewing's 43
neuroepithelioma 49
peripheral pnet 49
ppnet 49


External Ids:

Disease Ontology8 DOID:3369
OMIM47 612219
MeSH35 D012512
ICD10 via Orphanet26 C40, C41
SNOMED-CT via Orphanet59 76909002, 253096008, 55045006 73676002, more
MESH via Orphanet36 D018241
UMLS via Orphanet63 C0027828

Related Diseases for Peripheral Primitive Neuroectodermal Tumor

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17GeneCards, 18GeneDecks
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Diseases in the Peripheral Primitive Neuroectodermal Tumor family:

Localized Peripheral Primitive Neuroectodermal Tumor

Diseases related to Peripheral Primitive Neuroectodermal Tumor via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 128)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoma31.3DES, ATF1, EWSR1, FLI1, MUC1, ETV1
2neuroepithelioma31.1EWSR1, FLI1
3desmoplastic small round cell tumor30.6DES, EWSR1, MUC1
4synovial sarcoma30.6EWSR1, FLI1
5rhabdomyosarcoma30.6DES, EWSR1, FLI1, MDM2
6angiosarcoma30.6MUC1, FLI1
7alveolar rhabdomyosarcoma30.4DES, MDM2
8chondrosarcoma30.4MDM2, TAF15, MUC1, EWSR1, DES
9leukemia30.3ATF1, EWSR1, FLI1, PSG2, ERG, MDM2
10gastrointestinal stromal tumor30.2DES
11mesenchymal chondrosarcoma30.2MUC1, DES
12malignant peripheral nerve sheath tumor30.2MDM2, MUC1
13prostate cancer30.1MDM2, ETV4, ETV1, FLI1
14meningioma30.0PSG2, MUC1
15melanoma30.0DES, ATF1, EWSR1, FLI1, PSG2, MDM2
16primitive neuroectodermal tumor11.4
17localized peripheral primitive neuroectodermal tumor10.6
18osteosarcoma10.6
19extraskeletal ewing sarcoma10.5
20cervicitis10.5
21neuroblastoma10.5
22olfactory neuroblastoma10.3
23neuronitis10.3
24tetralogy of fallot10.3
25cauda equina syndrome10.3
26bone peripheral neuroepithelioma10.3
27paraganglioma10.3
28bone ewing's sarcoma10.3
29ewing's family localized tumor10.3
30extraosseous ewing's sarcoma10.3
31facial paralysis10.3
32thyroiditis10.3
33hemangioendothelioma10.3
34epithelioid hemangioendothelioma10.3
35extraosseous ewings sarcoma-primitive neuroepithelial tumor10.3
36fibrous dysplasia10.2
37soft tissue sarcoma10.2
38melanoma of soft parts10.2
39pericardial effusion10.1PSG2
40glomus tumor10.1DES
41fibrous meningioma10.1MUC1
42meningitis10.1
43dermatofibrosarcoma10.1MDM2
44syringoma10.1MUC1
45myxoid liposarcoma10.1ATF1
46connective tissue benign neoplasm10.1FLI1, EWSR1
47cerebral primitive neuroectodermal tumor10.1EWSR1, FLI1
48neurofibromatosis10.1
49nail-patella syndrome10.1
50bone localized ewing's sarcoma10.1

Graphical network of the top 20 diseases related to Peripheral Primitive Neuroectodermal Tumor:



Diseases related to peripheral primitive neuroectodermal tumor

Symptoms for Peripheral Primitive Neuroectodermal Tumor

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47OMIM
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Clinical features from OMIM:

612219

Drugs & Therapeutics for Peripheral Primitive Neuroectodermal Tumor

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Peripheral Primitive Neuroectodermal Tumor

Search NIH Clinical Center for Peripheral Primitive Neuroectodermal Tumor

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Peripheral Primitive Neuroectodermal Tumor

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Anatomical Context for Peripheral Primitive Neuroectodermal Tumor

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33MalaCards
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MalaCards organs/tissues related to Peripheral Primitive Neuroectodermal Tumor:

33
Bone, Lung, Kidney, Ovary, Adrenal gland, Bone marrow, Testes, Testis, Uterus, Thyroid, Liver, Thymus, Lymph node, Cervix

Animal Models for Peripheral Primitive Neuroectodermal Tumor or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Peripheral Primitive Neuroectodermal Tumor:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.5EWSR1, FLI1, MUC1, ETV4, MDM2
2MP:00053698.3MDM2, DES, EWSR1, FLI1, ETV1, ETV4
3MP:00053808.1ATF1, FLI1, ETV4, ERG, MDM2
4MP:00036318.0MDM2, ERG, ETV4, ETV1, FLI1, ATF1
5MP:00028737.7ATF1, EWSR1, MUC1, ETV1, ERG, MDM2
6MP:00107687.3DES, ATF1, EWSR1, FLI1, ETV1, ETV4

Publications for Peripheral Primitive Neuroectodermal Tumor

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52PubMed
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Articles related to Peripheral Primitive Neuroectodermal Tumor:

(show top 50)    (show all 116)
idTitleAuthorsYear
1
Primary peripheral primitive neuroectodermal tumor of the mandible. (24205482)
2013
2
Spinal Dumbbell-Shaped Peripheral Primitive Neuroectodermal Tumor in a Child. (24401730)
2013
3
Peripheral primitive neuroectodermal tumor in masseter muscle. (23714899)
2013
4
Peripheral primitive neuroectodermal tumor in a two-year-old paint horse. (22621943)
2012
5
Peripheral primitive neuroectodermal tumor of the pleura in a 41-year-old female. (22821316)
2012
6
Paravaginal peripheral primitive neuroectodermal tumor: A rare tumor. (22557788)
2011
7
Giant peripheral primitive neuroectodermal tumor of the mons pubis: a case report. (20882290)
2011
8
Peripheral primitive neuroectodermal tumor of the thymus. (21068011)
2011
9
Unusual presentation of peripheral primitive neuroectodermal tumor of the maxilla. (21119416)
2010
10
Impact of EWS-ETS fusion type on disease progression in Ewing's sarcoma/peripheral primitive neuroectodermal tumor: prospective results from the cooperative Euro-E.W.I.N.G. 99 trial. (20308673)
2010
11
Dumbbell-shaped peripheral primitive neuroectodermal tumor of the spine--case report and review of the literature. (19050994)
2009
12
Primary epidural peripheral primitive neuroectodermal tumor of the thoracic spine. (19940407)
2009
13
Imaging findings of abdominal peripheral primitive neuroectodermal tumor: report of four cases with pathological correlation. (19411024)
2009
14
Ewing's sarcoma/peripheral primitive neuroectodermal tumor (ES/PNET) differentiation in endometrial serous carcinomas. (19318687)
2009
15
Primary peripheral primitive neuroectodermal tumor of mandible. (18376294)
2008
16
Ewing's sarcoma and peripheral primitive neuroectodermal tumor in adults: different features of a rare neoplasm. (18418019)
2008
17
Peripheral primitive neuroectodermal tumor: a rare case of peripheral facial paralysis. (17505616)
2007
18
Peripheral primitive neuroectodermal tumor/Ewing's sarcoma of the craniospinal vault: case reports and review. (16784984)
2006
19
Peripheral primitive neuroectodermal tumor with postchemotherapy neuroblastoma-like differentiation. (16944972)
2006
20
Peripheral primitive neuroectodermal tumor of bowel mesentery in adults. (16889176)
2006
21
Radiologic findings of peripheral primitive neuroectodermal tumor arising in the retroperitoneum. (16554591)
2006
22
Intracranial peripheral primitive neuroectodermal tumor manifesting as abducens nerve palsy. (15657787)
2005
23
Peripheral primitive neuroectodermal tumor of the mandible with cytogenetic and molecular biology aberrations. (16094594)
2005
24
Peripheral primitive neuroectodermal tumor of the cerebellopontine angle. (15823816)
2005
25
Analysis of chromosome abnormalities by comparative genomic hybridization in malignant peripheral primitive neuroectodermal tumor of the ovary. (14984937)
2004
26
Unique cellular features of peripheral primitive neuroectodermal tumor: ultrastructural evidence of its unique cytodifferentiation. (15449113)
2004
27
Peripheral primitive neuroectodermal tumor of the stomach in a 14-year-old boy: a case report. (15618851)
2004
28
A peripheral primitive neuroectodermal tumor with generalized bone metastases in a puppy. (15232149)
2004
29
Peripheral primitive neuroectodermal tumor after radiotherapy. (12897617)
2003
30
Peripheral primitive neuroectodermal tumor of the maxillary gingivae with metastasis to cervical lymph nodes: report of a case. (12089700)
2002
31
Metastatic peripheral primitive neuroectodermal tumor (PNET) masquerading as liver abscess: a case report of liver metastasis in orbital PNET. (12080235)
2002
32
Peripheral primitive neuroectodermal tumor presenting in the retroperitoneum: a case report with immunohistochemical study. (12240569)
2002
33
Peripheral primitive neuroectodermal tumor (PPNET) of pelvic origin: report of a case arising from an unusual location. (11401207)
2001
34
Peripheral primitive neuroectodermal tumor: challenge for multimodal treatment. (11760735)
2001
35
Primary Ewing's sarcoma/peripheral primitive neuroectodermal tumor at the vertex of the skull with elevated serum carcinoembryonic antigen: case report. (11508817)
2001
36
Peripheral primitive neuroectodermal tumor with neuronal and glial differentiation: report of a case arising in suprarenal region. (11460974)
2001
37
Peripheral primitive neuroectodermal tumor of the parotid gland region: report of a case with fine-needle aspiration findings. (10679996)
2000
38
Documentation of EWS gene rearrangements by fluorescence in-situ hybridization (FISH) in frozen sections of Ewing's sarcoma-peripheral primitive neuroectodermal tumor. (10078922)
1999
39
The Ewing tumor family of peripheral primitive neuroectodermal tumors expresses human gastrin-releasing peptide. (9622091)
1998
40
Peripheral primitive neuroectodermal tumor: report of a case arising in the kidney. (9211963)
1997
41
Peripheral primitive neuroectodermal tumor involving the paravertebral and retroperitoneal regions. (9213191)
1997
42
Ewing's sarcoma and peripheral primitive neuroectodermal tumor: an interim report. (8865780)
1996
43
Is the EWS/FLI-1 fusion transcript specific for Ewing sarcoma and peripheral primitive neuroectodermal tumor? A report of four cases showing this transcript in a wider range of tumor types. (8644855)
1996
44
Very-high-dose short-term chemotherapy for poor-risk peripheral primitive neuroectodermal tumors, including Ewing's sarcoma, in children and young adults. (7595741)
1995
45
Gallium and thallium scintigraphy in pediatric peripheral primitive neuroectodermal tumor (Askin tumor) of the chest wall. (7738655)
1995
46
Malignant peripheral primitive neuroectodermal tumor (PNET) of the kidney. (8084311)
1994
47
Ewing's sarcoma and peripheral primitive neuroectodermal tumor. (7803540)
1994
48
Reverse transcriptase PCR amplification of EWS/FLI-1 fusion transcripts as a diagnostic test for peripheral primitive neuroectodermal tumors of childhood. (7506981)
1993
49
MIC2 is a specific marker for Ewing's sarcoma and peripheral primitive neuroectodermal tumors. Evidence for a common histogenesis of Ewing's sarcoma and peripheral primitive neuroectodermal tumors from MIC2 expression and specific chromosome aberration. (1848471)
1991
50
Overexpression of the pseudoautosomal gene MIC2 in Ewing's sarcoma and peripheral primitive neuroectodermal tumor. (1695726)
1990

Variations for Peripheral Primitive Neuroectodermal Tumor

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Expression for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

Search GEO for disease gene expression data for Peripheral Primitive Neuroectodermal Tumor.

Pathways for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

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50PathCards, 57SinoBiological, 30KEGG, 38NCBI BioSystems Database, 53QIAGEN
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Pathways related to Peripheral Primitive Neuroectodermal Tumor according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4MDM2, MUC1
2
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
8.7ATF1, ETV4, ERG, MDM2
3
Show member pathways
8.4MDM2, MUC1, ATF1, DES
46.9MDM2, ATF1, EWSR1, FLI1, ETV1, ETV4

Compounds for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

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45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Peripheral Primitive Neuroectodermal Tumor according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1indium459.9MUC1, PSG2
2s 100459.8MUC1, DES
3metronidazole45 1110.8PSG2, MUC1
4reticulin459.8DES, MUC1
5mucicarmine459.8MUC1, DES
6chromium459.8PSG2, MUC1
7b 723459.5PSG2, MUC1, DES
8hematoxylin459.4PSG2, MUC1, DES
9trastuzumab45 51 1111.4MDM2, MUC1
10p002459.4DES, PSG2, MDM2
11gold459.4PSG2, MUC1, DES
12formaldehyde45 2410.4PSG2, MUC1, DES
135fluorouracil459.2MDM2, PSG2, MUC1
14doxorubicin45 51 1111.2DES, PSG2, MDM2
15arginine459.1DES, EWSR1, ETV4, MDM2
16actinomycin d459.0MDM2, MUC1, DES
17adriamycin459.0MDM2, PSG2, MUC1, DES
1812-o-tetradecanoylphorbol 13-acetate458.9ETV4, MUC1, ATF1, DES
19oligonucleotide458.9ATF1, EWSR1, FLI1, MDM2
20glycogen45 249.9DES, MUC1, PSG2, MDM2
21testosterone45 61 24 1111.8DES, MUC1, ETV1, MDM2
22estrogen458.8MDM2, ETV4, MUC1, DES
23estradiol45 24 1110.7MDM2, MUC1, DES
24paraffin458.7DES, EWSR1, MUC1, PSG2, MDM2
25thymidine45 249.6DES, MUC1, ETV4, PSG2, MDM2
26vegf458.6DES, MUC1, ETV4, PSG2, MDM2
27nitric oxide45 24 1110.6MDM2, PSG2, ETV4, MUC1, DES
28progesterone45 29 61 24 1112.4DES, ATF1, MUC1, ETV4, MDM2
29glucose458.4DES, ATF1, MUC1, PSG2
30tyrosine458.3DES, EWSR1, MUC1, ETV1, ETV4, MDM2
31cyclic amp45 249.2DES, ATF1, EWSR1, MUC1, ETV4, MDM2
32serine457.5MDM2, DES, ATF1, EWSR1, FLI1, MUC1

GO Terms for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

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16Gene Ontology
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Cellular components related to Peripheral Primitive Neuroectodermal Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.2MDM2, TAF15, ERG, ETV1, FLI1, EWSR1

Biological processes related to Peripheral Primitive Neuroectodermal Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:0069779.4MDM2, MUC1
2regulation of transcription from RNA polymerase II promoterGO:0063579.1ERG, ETV4, ETV1, FLI1
3cell differentiationGO:0301549.0FLI1, ETV1, ETV4, ERG
4transcription from RNA polymerase II promoterGO:0063668.8ERG, ETV4, ETV1, FLI1

Molecular functions related to Peripheral Primitive Neuroectodermal Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1p53 bindingGO:0020399.4MDM2, MUC1
2sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0009819.1ERG, ETV4, ETV1, FLI1
3sequence-specific DNA bindingGO:0435658.4ATF1, FLI1, ETV1, ETV4, ERG
4protein bindingGO:0055156.2DES, ATF1, EWSR1, MUC1, ETV1, ERG

Products for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

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Sources for Peripheral Primitive Neuroectodermal Tumor

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet