PPNET
MCID: PRP025
MIFTS: 51

Peripheral Primitive Neuroectodermal Tumor (PPNET) malady

Neuronal, Bone, Cancer categories

Summaries for Peripheral Primitive Neuroectodermal Tumor

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 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 neuroepithelioma and rhabdoid tumor. 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. Related mouse phenotypes are nervous system and mortality/aging.

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

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 36MESH via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


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 61
ewing's tumor 8 43 21
ewings sarcoma-primitive neuroectodermal tumor 8 61
ewing's sarcoma 43 21
ewing tumor 43 21
ewing's sarcoma/peripheral primitive neuroectodermal tumor 8
neuroectodermal tumor, primitive 61
pnet of thoracopulmonary region 8
tumor of the ewing family 21
ewing family of tumors 21
neuroectodermal tumors 61
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 Orphanet58 76909002, 253096008, 55045006
MESH via Orphanet36 D018241
UMLS via Orphanet62 C0027828

Related Diseases for Peripheral Primitive Neuroectodermal Tumor

Sources:
17GeneCards, 18GeneDecks
See all sources

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 183)
idRelated DiseaseScoreTop Affiliating Genes
1neuroepithelioma30.9EWSR1, FLI1, ENO2
2rhabdoid tumor30.8MUC1, DES
3extraskeletal ewing sarcoma30.6CD99, EWSR1
4desmoplastic small round cell tumor30.6EWSR1, DES, MUC1
5gastrointestinal stromal tumor30.6DES, ENO2
6synovial sarcoma30.6MDM2, FLI1, DES, MUC1
7angiosarcoma30.4MUC1, FLI1
8bladder carcinoma30.4MDM2, PSG2
9olfactory neuroblastoma30.4ENO2, CD99, FLI1
10clear cell sarcoma30.4FUS, ATF1, EWSR1
11squamous cell carcinoma30.4PSG2, MDM2, MUC1, ETV4, ETV7, ENO2
12ependymoma30.3ENO2, MUC1, MDM2
13acute leukemia30.3EWSR1
14alveolar rhabdomyosarcoma30.3MDM2, DES, ENO2
15cerebral primitive neuroectodermal tumor30.3EWSR1, FLI1, CD99, ENO2
16fibrous histiocytoma30.2ATF1, DES, FUS
17lymphoblastic lymphoma30.1FLI1, CD99, ENO2
18merkel cell carcinoma30.1MUC1, ENO2
19wilms tumor30.0EWSR1, FLI1, DES, ENO2
20teratoma29.9CD99, ENO2
21melanotic neuroectodermal tumor11.1
22intracranial primitive neuroectodermal tumor10.6
23vulvar sarcoma10.6
24localized peripheral primitive neuroectodermal tumor10.5
25bone ewing's sarcoma10.5
26cerebellopontine angle primitive neuroectodermal10.5
27soft tissue sarcoma10.5
28soft tissue peripheral neuroepithelioma10.5
29small cell sarcoma10.5
30atypical teratoid rhabdoid tumor10.4
31childhood medulloblastoma10.4
32supratentorial primitive neuroectodermal tumors, childhood10.4
33extraosseous ewings sarcoma-primitive neuroepithelial tumor10.3
34bone peripheral neuroepithelioma10.3
35cauda equina syndrome10.3
36askin's tumor10.3
37n syndrome10.3
38paraganglioma10.3
39bladder squamous cell carcinoma10.3
40thyroid sarcoma10.3
41hemangioendothelioma10.3
42abducens palsy10.3
43hemorrhage, intracerebral10.3
44epithelioid hemangioendothelioma10.3
45vagina sarcoma10.3
46unilateral retinoblastoma10.2
47astrocytoma10.2
48malignant peripheral neuroectodermal tumor of the cervix uteri10.2
49fibrous dysplasia10.2
50supratentorial primitive neuroectodermal tumor10.2

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

612219

Drugs & Therapeutics for Peripheral Primitive Neuroectodermal Tumor

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Peripheral Primitive Neuroectodermal Tumor

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 UMLS61/NDF-RT41:

Genetic Tests for Peripheral Primitive Neuroectodermal Tumor

Anatomical Context for Peripheral Primitive Neuroectodermal Tumor

Animal Models for Peripheral Primitive Neuroectodermal Tumor or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Peripheral Primitive Neuroectodermal Tumor:

37
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

Sources:
51PubMed
See all sources

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
Three cases of a peripheral primitive neuroectodermal tumor diagnosed using computed tomography or magnetic resonance imaging. (24137405)
2013
4
Peripheral primitive neuroectodermal tumor with osseous component of the small bowel mesentery: a case study. (23482293)
2013
5
Peripheral primitive neuroectodermal tumor of the adrenal gland: A rare entity. (24235803)
2013
6
Ewing sarcoma/peripheral primitive neuroectodermal tumor and related tumors. (22420726)
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 (PNET) of the vulva: a case report. (21446342)
2011
10
Primary cutaneous peripheral primitive neuroectodermal tumor with multiple papules and nodules. (21700543)
2011
11
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
12
Fine needle aspiration cytology of intracranial peripheral-type primitive neuroectodermal tumor. (20968168)
2010
13
Primary epidural peripheral primitive neuroectodermal tumor of the thoracic spine. (19940407)
2009
14
Imaging findings of abdominal peripheral primitive neuroectodermal tumor: report of four cases with pathological correlation. (19411024)
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
Primary Ewing sarcoma/peripheral primitive neuroectodermal tumor of the vulva. (18602673)
2008
18
Peripheral primitive neuroectodermal tumor arising from the seminal vesicle. (18362495)
2008
19
Peripheral primitive neuroectodermal tumor: a rare case of peripheral facial paralysis. (17505616)
2007
20
An infant case of intracranial peripheral-type primitive neuroectodermal tumor with long-term survival. (18095134)
2007
21
Radiologic findings of peripheral primitive neuroectodermal tumor arising in the retroperitoneum. (16554591)
2006
22
Peripheral primitive neuroectodermal tumor of the cavernous sinus: case report. (16639307)
2006
23
Coexistence of peripheral primitive neuroectodermal tumor and tetralogy of Fallot. (16599020)
2006
24
Mouth metastasis of peripheral primitive neuroectodermal tumor. (15641966)
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
A case of peripheral primitive neuroectodermal tumor of the ovary. (15086740)
2004
28
Peripheral primitive neuroectodermal tumor after radiotherapy. (12897617)
2003
29
Peripheral primitive neuroectodermal tumor of the maxillary gingivae with metastasis to cervical lymph nodes: report of a case. (12089700)
2002
30
Peripheral primitive neuroectodermal tumor of the jugular foramen: case report. (12383375)
2002
31
Primary Ewing's sarcoma/peripheral primitive neuroectodermal tumor at the vertex of the skull with elevated serum carcinoembryonic antigen: case report. (11508817)
2001
32
Peripheral primitive neuroectodermal tumor of the vulva: report of a case with imprint cytology. (11726102)
2001
33
Intracranial Ewing sarcoma/'peripheral' primitive neuroectodermal tumor of dural origin with molecular genetic confirmation. (11349881)
2001
34
Soft tissue Ewing sarcoma--peripheral primitive neuroectodermal tumor with atypical clear cell pattern shows a new type of EWS-FEV fusion transcript. (10976720)
2000
35
Ewing's sarcoma/peripheral primitive neuroectodermal tumor (pPNET) arising in the omentum as a multilocular cyst with intracystic hemorrhage. (11573731)
2000
36
Documentation of EWS gene rearrangements by fluorescence in-situ hybridization (FISH) in frozen sections of Ewing's sarcoma-peripheral primitive neuroectodermal tumor. (10078922)
1999
37
Peripheral Primitive Neuroectodermal Tumor (Peripheral Neuroepithelioma) in a Dog. (12456182)
1998
38
Peripheral primitive neuroectodermal tumor presenting with diffuse cutaneous involvement and 7;22 translocation. (9589085)
1998
39
Bone marrow metastasis in Ewing's sarcoma and peripheral primitive neuroectodermal tumor: An immunohistochemical study. (9507036)
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
Detection of circulating tumor cells in patients with Ewing's sarcoma and peripheral primitive neuroectodermal tumor. (9053480)
1997
43
Long-term survival in an adult metastatic renal peripheral primitive neuroectodermal tumor (PPNET) with multimodality treatment including high-dose chemotherapy. (9296224)
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
Peripheral primitive neuroectodermal tumor of the vulva. (8063257)
1994
47
Reverse transcriptase PCR amplification of EWS/FLI-1 fusion transcripts as a diagnostic test for peripheral primitive neuroectodermal tumors of childhood. (7506981)
1993
48
Overexpression of the pseudoautosomal gene MIC2 in Ewing's sarcoma and peripheral primitive neuroectodermal tumor. (1695726)
1990
49
Peripheral primitive neuroectodermal tumor (peripheral neuroepithelioma) in children. A review of the St. Jude experience and controversies in diagnosis and management. (2551479)
1989
50
Primitive neuroectodermal tumor (peripheral neuroblastoma). (3003993)
1985

Genetic Variations for Peripheral Primitive Neuroectodermal Tumor

Expression for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 30KEGG
See all sources

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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Peripheral Primitive Neuroectodermal Tumor according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1indium4510.3MUC1, PSG2
2askin4510.3EWSR1, ENO2
3b 7234510.2MUC1, DES, PSG2
4metronidazole45 1111.1MUC1, PSG2
5s 1004510.1ENO2, MUC1, DES
6reticulin4510.1MUC1, DES
7toluidine4510.0ENO2, DES
8adriamycin4510.0PSG2, MDM2, DES, MUC1
9hematoxylin459.9PSG2, DES, MUC1, ENO2
10p002459.8PSG2, MDM2, DES
11formaldehyde45 2410.8PSG2, DES, MUC1, ENO2
12mucicarmine459.8MUC1, DES
1312-o-tetradecanoylphorbol 13-acetate459.8ATF1, DES, MUC1, ETV4, ETV7
14cyclic amp45 2410.7EWSR1, MDM2, ATF1, DES, MUC1, ETV4
15glycogen45 2410.6ENO2, MUC1, DES, MDM2, PSG2
16thymidine45 2410.5PSG2, MDM2, DES, MUC1, ETV4, ENO2
17progesterone45 60 29 11 2413.5MDM2, ATF1, DES, MUC1, ETV4, ENO2
18testosterone45 60 11 2412.5MDM2, DES, MUC1, ETV1, ENO2
19nitric oxide45 11 2411.4PSG2, MDM2, DES, MUC1, ETV4, ENO2
20paraffin459.3ENO2, EWSR1, PSG2, MDM2, DES, MUC1
21vegf459.3PSG2, MDM2, DES, MUC1, ETV4, CD99
22serine459.3EWSR1, MDM2, FLI1, ATF1, DES, MUC1
23tyrosine458.9EWSR1, MDM2, DES, MUC1, ETV1, ETV4

GO Terms for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

Sources:
16Gene Ontology
See all sources

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:0037009.4FLI1, ATF1, ETV1, ETV4, ETV7, ERG
2sequence-specific DNA bindingGO:0435659.2ERG, ETV7, ETV4, ETV1, ATF1
3protein bindingGO:0055157.6DES, MDM2, FLII, ATF1, CCNB3, MUC1

Products for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

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Sources for Peripheral Primitive Neuroectodermal Tumor

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet