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
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 with osseous component of the small bowel mesentery: a case study. (23482293)
2013
5
Peripheral primitive neuroectodermal tumor in a two-year-old paint horse. (22621943)
2012
6
Peripheral primitive neuroectodermal tumor of the pleura in a 41-year-old female. (22821316)
2012
7
Paravaginal peripheral primitive neuroectodermal tumor: A rare tumor. (22557788)
2011
8
Peripheral primitive neuroectodermal tumor of the thymus. (21068011)
2011
9
Peripheral primitive neuroectodermal tumor of the chest wall in childhood: clinico-pathological significance, management and literature review. (21539764)
2011
10
Peripheral primitive neuroectodermal tumor (PNET) of the vulva: a case report. (21446342)
2011
11
Primary cutaneous peripheral primitive neuroectodermal tumor with multiple papules and nodules. (21700543)
2011
12
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
13
Peripheral primitive neuroectodermal tumor causing cauda equina syndrome with destruction of L5 vertebra. (20697491)
2010
14
Dumbbell-shaped peripheral primitive neuroectodermal tumor of the spine--case report and review of the literature. (19050994)
2009
15
Primary epidural peripheral primitive neuroectodermal tumor of the thoracic spine. (19940407)
2009
16
Ewing's sarcoma/peripheral primitive neuroectodermal tumor (ES/PNET) differentiation in endometrial serous carcinomas. (19318687)
2009
17
Primary peripheral primitive neuroectodermal tumor/Ewing's tumor of the testis in a 46-year-old man-differential diagnosis and review of the literature. (19269015)
2009
18
Peripheral primitive neuroectodermal tumor of the urinary bladder in an Arab woman with history of squamous cell carcinoma: a case report. (19830128)
2009
19
Primary peripheral primitive neuroectodermal tumor of mandible. (18376294)
2008
20
Extensive GI tract involvement of Ewing's sarcoma/peripheral primitive neuroectodermal tumor in an octogenarian. (18249405)
2008
21
Primary Ewing sarcoma/peripheral primitive neuroectodermal tumor of the vulva. (18602673)
2008
22
Peripheral primitive neuroectodermal tumor arising from the seminal vesicle. (18362495)
2008
23
Radiologic findings of peripheral primitive neuroectodermal tumor arising in the retroperitoneum. (16554591)
2006
24
Peripheral primitive neuroectodermal tumor of the cauda equina in an elderly patient. Case report. (16850960)
2006
25
Intracranial peripheral primitive neuroectodermal tumor manifesting as abducens nerve palsy. (15657787)
2005
26
Mouth metastasis of peripheral primitive neuroectodermal tumor. (15641966)
2005
27
Protocol for the examination of specimens from pediatric and adult patients with osseous and extraosseous ewing sarcoma family of tumors, including peripheral primitive neuroectodermal tumor and ewing sarcoma. (15974809)
2005
28
Analysis of chromosome abnormalities by comparative genomic hybridization in malignant peripheral primitive neuroectodermal tumor of the ovary. (14984937)
2004
29
Peripheral primitive neuroectodermal tumor of the stomach in a 14-year-old boy: a case report. (15618851)
2004
30
Ewing sarcoma/peripheral primitive neuroectodermal tumor: adult abdominal tumors with an Ewing sarcoma gene rearrangement demonstrated by fluorescence in situ hybridization in paraffin sections. (15354743)
2004
31
Primary primitive peripheral neuroectodermal tumor of the prostate. Immunophenotypic and molecular study of a case. (12683899)
2003
32
Metastatic peripheral primitive neuroectodermal tumor (PNET) masquerading as liver abscess: a case report of liver metastasis in orbital PNET. (12080235)
2002
33
Peripheral primitive neuroectodermal tumor: challenge for multimodal treatment. (11760735)
2001
34
Primary Ewing's sarcoma/peripheral primitive neuroectodermal tumor at the vertex of the skull with elevated serum carcinoembryonic antigen: case report. (11508817)
2001
35
Peripheral primitive neuroectodermal tumor of the vulva: report of a case with imprint cytology. (11726102)
2001
36
Soft tissue Ewing sarcoma--peripheral primitive neuroectodermal tumor with atypical clear cell pattern shows a new type of EWS-FEV fusion transcript. (10976720)
2000
37
Ewing's sarcoma/peripheral primitive neuroectodermal tumor (pPNET) arising in the omentum as a multilocular cyst with intracystic hemorrhage. (11573731)
2000
38
Neural differentiation and prognosis in peripheral primitive neuroectodermal tumor. (10811686)
2000
39
Documentation of EWS gene rearrangements by fluorescence in-situ hybridization (FISH) in frozen sections of Ewing's sarcoma-peripheral primitive neuroectodermal tumor. (10078922)
1999
40
The Ewing tumor family of peripheral primitive neuroectodermal tumors expresses human gastrin-releasing peptide. (9622091)
1998
41
Bone marrow metastasis in Ewing's sarcoma and peripheral primitive neuroectodermal tumor: An immunohistochemical study. (9507036)
1998
42
Peripheral primitive neuroectodermal tumor: report of a case arising in the kidney. (9211963)
1997
43
Peripheral primitive neuroectodermal tumor involving the paravertebral and retroperitoneal regions. (9213191)
1997
44
The Ewing's sarcoma family of tumors: Ewing's sarcoma and peripheral primitive neuroectodermal tumor of bone and soft tissue. (9494764)
1997
45
Peripheral neuroepithelioma (peripheral primitive neuroectodermal tumor) of the uterine cervix. (9111767)
1996
46
Olfactory neuroblastoma is a peripheral primitive neuroectodermal tumor related to Ewing sarcoma. (8577710)
1996
47
Ewing's sarcoma and peripheral primitive neuroectodermal tumor. (7803540)
1994
48
Cutaneous angiosarcoma as a second malignant neoplasm after peripheral primitive neuroectodermal tumor. (1608360)
1992
49
Overexpression of the pseudoautosomal gene MIC2 in Ewing's sarcoma and peripheral primitive neuroectodermal tumor. (1695726)
1990
50
Peripheral primitive neuroectodermal tumor (peripheral neuroepithelioma) in children. A review of the St. Jude experience and controversies in diagnosis and management. (2551479)
1989

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