PPNET
MCID: PRP025
MIFTS: 63

Peripheral Primitive Neuroectodermal Tumor (PPNET) malady

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

Summaries for Peripheral Primitive Neuroectodermal Tumor

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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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 osteosarcoma. An important gene associated with Peripheral Primitive Neuroectodermal Tumor is EWSR1 (EWS RNA-binding protein 1), and among its related pathways are Prostate Cancer and Transcriptional misregulation in cancer. The drugs cyclophosphamide and etoposide and the compounds indium and askin have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and kidney, and related mouse phenotypes are nervous system and mortality/aging.

NIH Rare Diseases:42 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:46 612219

Aliases & Classifications for Peripheral Primitive Neuroectodermal Tumor

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 35MESH via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Genetic diseases
Anatomical: Neuronal diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
ewing sarcoma:
Inheritance: Sporadic; Age of onset: Childhood
neuroepithelioma:
Inheritance: Sporadic; Age of onset: Childhood


Aliases & Descriptions:

peripheral primitive neuroectodermal tumor 8 10 48
ewing sarcoma 8 9 42 21 46 48
ewings sarcoma 8 44 60
ewing's tumor 8 42 21
ewings sarcoma-primitive neuroectodermal tumor 8 60
ewing's sarcoma 42 21
ewing tumor 42 21
ewing's sarcoma/peripheral primitive neuroectodermal tumor 8
neuroectodermal tumor, primitive 60
pnet of thoracopulmonary region 8
tumor of the ewing family 21
ewing family of tumors 21
neuroectodermal tumors 60
sarcoma, ewing's 42
neuroepithelioma 48
peripheral pnet 48
ppnet 48


External Ids:

Disease Ontology8 DOID:3369
OMIM46 612219
MeSH34 D012512
ICD10 via Orphanet26 C40, C41
SNOMED-CT via Orphanet57 76909002, 253096008, 55045006 73676002, more
MESH via Orphanet35 D018241
UMLS via Orphanet61 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 230)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoma31.5FUS, ENO2, MDM2, FLI1, ATF1, DES
2osteosarcoma30.7MDM2
3endometrial carcinoma30.6PSG2, ETV7
4gastrointestinal stromal tumor30.6DES, ENO2
5synovial sarcoma30.6MUC1, DES, FLI1, MDM2
6rhabdomyosarcoma30.5CD99, EWSR1, MDM2, FLI1, DES, ENO2
7chondrosarcoma30.4FUS, ENO2, TAF15, MUC1, DES, EWSR1
8angiosarcoma30.4FLI1, MUC1
9bladder carcinoma30.4MDM2, PSG2
10olfactory neuroblastoma30.4FLI1, ENO2, CD99
11clear cell sarcoma30.4FUS, EWSR1, ATF1
12extraskeletal ewing sarcoma30.4EWSR1, CD99
13squamous cell carcinoma30.4ETV4, ETV7, ENO2, MUC1, MDM2, PSG2
14leukemia30.4ERG, PSG2, MDM2, EWSR1, ETV7, FLI1
15neuroepithelioma30.3EWSR1, ENO2, FLI1
16embryonal rhabdomyosarcoma30.3DES, EWSR1
17acute leukemia30.2EWSR1
18cerebral primitive neuroectodermal tumor30.2ENO2, CD99, FLI1, EWSR1
19alveolar rhabdomyosarcoma30.2MDM2, DES, ENO2
20fibrous histiocytoma30.2DES, FUS, ATF1
21myeloid leukemia30.0ERG, ETV7
22mesenchymal chondrosarcoma30.0MUC1, DES
23merkel cell carcinoma30.0ENO2, MUC1
24retinoblastoma30.0MDM2, ETV7, ENO2
25prostate cancer30.0MDM2, ETV1, ETV4, ETV7, ENO2, FLI1
26melanoma30.0PSG2, EWSR1, MDM2, FLI1, ATF1, ENO2
27epulis29.9ENO2
28meningioma29.8PSG2, MUC1
29primitive neuroectodermal tumor11.3
30melanotic neuroectodermal tumor11.1
31kidney sarcoma10.8
32cerebritis10.6
33intracranial primitive neuroectodermal tumor10.6
34vulvar sarcoma10.6
35localized peripheral primitive neuroectodermal tumor10.5
36bone ewing's sarcoma10.5
37cerebellopontine angle primitive neuroectodermal10.4
38cerebellopontine angle tumor10.4
39cervicitis10.4
40neuroblastoma10.4
41soft tissue peripheral neuroepithelioma10.4
42small cell sarcoma10.4
43breast sarcoma10.4
44atypical teratoid rhabdoid tumor10.4
45childhood medulloblastoma10.4
46bone peripheral neuroepithelioma10.3
47neuronitis10.3
48tetralogy of fallot10.3
49differentiating neuroblastoma10.3
50cauda equina syndrome10.3

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



Diseases related to peripheral primitive neuroectodermal tumor

Clinical Features for Peripheral Primitive Neuroectodermal Tumor

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Sources:
46OMIM
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Clinical features from OMIM:

612219

Drugs & Therapeutics for Peripheral Primitive Neuroectodermal Tumor

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Peripheral Primitive Neuroectodermal Tumor

Search NIH Clinical Center for Peripheral Primitive Neuroectodermal Tumor

Search CenterWatch for Peripheral Primitive Neuroectodermal Tumor

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Peripheral Primitive Neuroectodermal Tumor

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Anatomical Context for Peripheral Primitive Neuroectodermal Tumor

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32MalaCards
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MalaCards organs/tissues related to Peripheral Primitive Neuroectodermal Tumor:

32
Bone, Lung, Kidney, Ovary, Adrenal gland, Prostate, Uterus, Testis, Testes, Bone marrow, Thyroid, Liver, Brain, Thymus, Lymph node, Cervix

Animal Models for Peripheral Primitive Neuroectodermal Tumor or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Peripheral Primitive Neuroectodermal Tumor:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.4ETV1, ETV4, ERG, ENO2, COLQ
2MP:00107688.1FUS, COLQ, EWSR1, MDM2, FLII, FLI1

Publications for Peripheral Primitive Neuroectodermal Tumor

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50PubMed
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Articles related to Peripheral Primitive Neuroectodermal Tumor:

(show top 50)    (show all 127)
idTitleAuthorsYear
1
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor in the Adrenal Gland of an Adolescent: A Case Report and Review of the Literature. (24276043)
2013
2
Extraosseous Ewing sarcoma and peripheral primitive neuroectodermal tumor of the thyroid gland: Case report and review. (23599116)
2013
3
FDG PET/CT in Peripheral Primitive Neuroectodermal Tumor of the Retroperitoneum. (23877516)
2013
4
Targeting VEGF-VEGFR Pathway by Sunitinib in Peripheral Primitive Neuroectodermal Tumor, Paraganglioma and Epithelioid Hemangioendothelioma: Three Case Reports. (23626551)
2013
5
Peripheral primitive neuroectodermal tumor of the cervical spine. (23050205)
2012
6
Giant peripheral primitive neuroectodermal tumor of the mons pubis: a case report. (20882290)
2011
7
Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor in the Cerebellopontine Angle : Diagnosis and Treatment. (21887395)
2011
8
Unusual presentation of peripheral primitive neuroectodermal tumor of the maxilla. (21119416)
2010
9
Peripheral primitive neuroectodermal tumor of head-neck region: our experience. (23120643)
2009
10
Case Report: Intracranial peripheral primitive neuroectodermal tumor - Ewing's sarcoma of dura with transcalvarial-subgaleal extension: An unusual radiological presentation. (19881110)
2009
11
Solitary epidural brain metastasis of a peripheral neuroepithelioma (a primitive neuroectodermal tumor): a case report. (22470583)
2008
12
A case of congenital peripheral primitive neuroectodermal tumor presenting with multiple metastases. (18176178)
2008
13
Intracranial peripheral-type primitive neuroectodermal tumor. (18296876)
2008
14
Peripheral primitive neuroectodermal tumor: a rare case of peripheral facial paralysis. (17505616)
2007
15
Peripheral primitive neuroectodermal tumor/Ewing's sarcoma of the craniospinal vault: case reports and review. (16784984)
2006
16
Peripheral primitive neuroectodermal tumor with postchemotherapy neuroblastoma-like differentiation. (16944972)
2006
17
Peripheral primitive neuroectodermal tumor of bowel mesentery in adults. (16889176)
2006
18
Peripheral primitive neuroectodermal tumor of the mandible with cytogenetic and molecular biology aberrations. (16094594)
2005
19
Peripheral primitive neuroectodermal tumor of the cerebellopontine angle. (15823816)
2005
20
Peripheral primitive neuroectodermal tumor associated with the anterior mandible: a case report and review of the literature. (16243245)
2005
21
Primary intracranial peripheral primitive neuroectodermal tumor/Ewing's sarcoma presenting with acute intracerebral hemorrhage. (16033135)
2005
22
Unique cellular features of peripheral primitive neuroectodermal tumor: ultrastructural evidence of its unique cytodifferentiation. (15449113)
2004
23
A peripheral primitive neuroectodermal tumor with generalized bone metastases in a puppy. (15232149)
2004
24
A case of peripheral-type primitive neuroectodermal tumor arising in the dura mater at the frontal base]. (15112448)
2004
25
Peripheral primitive neuroectodermal tumor of the chest wall of a 69-year-old man. (15335184)
2004
26
Congenital peripheral primitive neuroectodermal tumor refractory to treatment. (15543017)
2004
27
Malignant peripheral primitive neuroectodermal tumor-peripheral neuroepithelioma of the head and neck: a clinicopathologic study of five cases and review of the literature. (12784241)
2003
28
Ewing's sarcoma and peripheral primitive neuroectodermal tumor cells produce large quantities of bioactive tumor necrosis factor-alpha (TNF-alpha) after radiation exposure. (12873688)
2003
29
Peripheral primitive neuroectodermal tumor presenting in the retroperitoneum: a case report with immunohistochemical study. (12240569)
2002
30
Malignant peripheral primitive neuroectodermal tumor of the kidney. (12547163)
2002
31
Fine needle aspiration cytology in the diagnosis and management of children and adolescents with Ewing sarcoma and peripheral primitive neuroectodermal tumor. (11835234)
2002
32
Atypical pleomorphic extraosseous ewing tumor/peripheral primitive neuroectodermal tumor with unusual phenotypic/genotypic profile. (11854596)
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 with neuronal and glial differentiation: report of a case arising in suprarenal region. (11460974)
2001
35
Visceral primitive peripheral neuroectodermal tumors: a clinicopathologic and molecular study. (11679946)
2001
36
Peripheral primitive neuroectodermal tumor within the spinal epidural space. (11666019)
2001
37
Peripheral primitive neuroectodermal tumor of the parotid gland region: report of a case with fine-needle aspiration findings. (10679996)
2000
38
Peripheral primitive neuroectodermal tumor of the small bowel mesentery: a case showing perforation at onset. (10849329)
2000
39
Endometrial endometrioid carcinomas associated with Ewing sarcoma/peripheral primitive neuroectodermal tumor. (10782408)
2000
40
Detection of EWS-FLI-1 fusion in Ewing's sarcoma/peripheral primitive neuroectodermal tumor by fluorescence in situ hybridization using formalin-fixed paraffin-embedded tissue. (10088552)
1999
41
Peripheral neuroblastoma and primitive neuroectodermal tumor in Japanese black cattle. (9713820)
1998
42
Treatment of children with peripheral primitive neuroectodermal tumor or extraosseous Ewing's tumor with Ewing's-directed therapy. (9482414)
1998
43
Peripheral primitive neuroectodermal tumors in adults: documentation by molecular analysis. (9508202)
1998
44
Ewing's sarcoma and peripheral primitive neuroectodermal tumor: an interim report. (8865780)
1996
45
Very-high-dose short-term chemotherapy for poor-risk peripheral primitive neuroectodermal tumors, including Ewing's sarcoma, in children and young adults. (7595741)
1995
46
Gallium and thallium scintigraphy in pediatric peripheral primitive neuroectodermal tumor (Askin tumor) of the chest wall. (7738655)
1995
47
Malignant peripheral primitive neuroectodermal tumor (PNET) of the kidney. (8084311)
1994
48
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
49
Case 3. Primitive neuroectodermal tumor-peripheral neuroepithelioma. (2748481)
1989
50
Malignant peripheral primitive neuroectodermal tumor of the uterus. (3037196)
1987

Genetic Variations for Peripheral Primitive Neuroectodermal Tumor

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Expression for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

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1BioGPS, 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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37NCBI BioSystems Database, 29KEGG
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Pathways related to Peripheral Primitive Neuroectodermal Tumor according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8ERG, ETV4, ATF1, MDM2
28.6FUS, EWSR1, MDM2, FLI1, ATF1, ETV1

Compounds for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

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44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Peripheral Primitive Neuroectodermal Tumor according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1indium4410.3MUC1, PSG2
2askin4410.3EWSR1, ENO2
3b 7234410.2MUC1, DES, PSG2
4metronidazole44 1111.1MUC1, PSG2
5s 1004410.1ENO2, MUC1, DES
6reticulin4410.1MUC1, DES
7toluidine4410.0ENO2, DES
8adriamycin4410.0PSG2, MDM2, DES, MUC1
9hematoxylin449.9PSG2, DES, MUC1, ENO2
10p002449.8PSG2, MDM2, DES
11formaldehyde44 2410.8PSG2, DES, MUC1, ENO2
12mucicarmine449.8MUC1, DES
1312-o-tetradecanoylphorbol 13-acetate449.8ATF1, DES, MUC1, ETV4, ETV7
14cyclic amp44 2410.7EWSR1, MDM2, ATF1, DES, MUC1, ETV4
15glycogen44 2410.6ENO2, MUC1, DES, MDM2, PSG2
16thymidine44 2410.5PSG2, MDM2, DES, MUC1, ETV4, ENO2
17progesterone44 59 28 11 2413.5MDM2, ATF1, DES, MUC1, ETV4, ENO2
18testosterone44 59 11 2412.5MDM2, DES, MUC1, ETV1, ENO2
19nitric oxide44 11 2411.4PSG2, MDM2, DES, MUC1, ETV4, ENO2
20paraffin449.3ENO2, EWSR1, PSG2, MDM2, DES, MUC1
21vegf449.3PSG2, MDM2, DES, MUC1, ETV4, CD99
22serine449.3EWSR1, MDM2, FLI1, ATF1, DES, MUC1
23tyrosine448.9EWSR1, MDM2, DES, MUC1, ETV1, ETV4

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
1nucleolusGO:0057308.8MDM2, FLII, ETV4, ETV7, TAF15, FUS
2nucleusGO:0056347.4FUS, CCNB3, EWSR1, MDM2, FLII, FLI1

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037009.4ERG, ETV7, ETV4, ETV1, ATF1, FLI1
2sequence-specific DNA bindingGO:0435659.2ATF1, ETV1, ETV4, ETV7, ERG
3protein bindingGO:0055157.6FUS, COLQ, CCNB3, EWSR1, MDM2, FLII

Products for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

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Sources for Peripheral Primitive Neuroectodermal Tumor

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet