PPNET
MCID: PRP025
MIFTS: 65

Peripheral Primitive Neuroectodermal Tumor (PPNET) malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Cancer diseases categories
Download this MalaCard

Summaries for Peripheral Primitive Neuroectodermal Tumor

About this section


Fully expand this MalaCard
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: Peripheral Primitive Neuroectodermal Tumor, also known as ewing sarcoma, is related to neuroectodermal tumor and synovial sarcoma, and has symptoms including 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.

Disease Ontology:8 A bone cancer that has material basis in neural crest cells derived from undeveloped, undifferentiated neuroectoderm.

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

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Peripheral Primitive Neuroectodermal Tumor, Aliases & Descriptions:

Name: Peripheral Primitive Neuroectodermal Tumor 8 10 48
Ewing Sarcoma 8 9 42 21 46 48
Ewings Sarcoma 8 44 62
Ewing's Tumor 8 42 21
Localized Peripheral Primitive Neuroectodermal Tumor 8 62
Ewings Sarcoma-Primitive Neuroectodermal Tumor 8 62
Localized Ewing's Tumor 8 62
Neuroepithelioma 48 62
Ewing's Sarcoma 42 21
Peripheral Pnet 48 62
Ewing Tumor 42 21
Ppnet 48 62
 
Localized Ewing's Sarcoma/peripheral Primitive Neuroectodermal Tumor 8
Ewing's Sarcoma/peripheral Primitive Neuroectodermal Tumor 8
Neuroectodermal Tumor, Primitive 62
Pnet of Thoracopulmonary Region 8
Ewing's Family Localized Tumor 8
Ewing's Sarcoma, Localized 62
Tumor of the Ewing Family 21
Localized Ewing's Sarcoma 8
Ewing's Family of Tumors 62
Localized Ewing Sarcoma 8
Ewing Family of Tumors 21
Sarcoma, Ewing's 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:3369
OMIM46 612219
MeSH34 D012512
ICD10 via Orphanet26 C40, C41
UMLS via Orphanet63 C0027828
MESH via Orphanet35 D018241

Related Diseases for Peripheral Primitive Neuroectodermal Tumor

About this section

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

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1neuroectodermal tumor32.6EWSR1, FLI1
2synovial sarcoma31.3FLI1, EWSR1
3gastrointestinal stromal tumor31.2DES
4paraganglioma31.2DES
5desmoplastic small round cell tumor31.0EWSR1, MUC1, DES
6angiosarcoma30.8FLI1, MUC1
7alveolar rhabdomyosarcoma30.7MDM2, DES
8rhabdomyosarcoma30.7DES, MDM2, EWSR1, FLI1
9mesenchymal chondrosarcoma30.6MUC1, DES
10meningioma30.4MUC1, PSG2
11breast cancer30.3MDM2, ETV4, MUC1, PSG2
12malignant peripheral nerve sheath tumor30.3MDM2, MUC1
13sarcoma30.1ATF1, TAF15, ETV1, MUC1, FLI1, MDM2
14prostate cancer30.1FLI1, ETV1, ETV4, MDM2
15chondrosarcoma30.0TAF15, DES, MDM2, EWSR1, MUC1
16leukemia29.9ATF1, EWSR1, MDM2, ERG, PSG2, FLI1
17melanoma29.5ATF1, DES, EWSR1, FLI1, PSG2, MDM2
18neuroepithelioma10.6
19osteosarcoma10.6
20bone ewing's sarcoma10.5
21cervicitis10.5
22neuroblastoma10.5
23soft tissue peripheral neuroepithelioma10.5
24extraskeletal ewing sarcoma10.5
25pericardial effusion10.5PSG2
26fibrous meningioma10.4MUC1
27syringoma10.4MUC1
28myxoid liposarcoma10.4ATF1
29connective tissue benign neoplasm10.4EWSR1, FLI1
30cerebral primitive neuroectodermal tumor10.4EWSR1, FLI1
31olfactory neuroblastoma10.3
32tetralogy of fallot10.3
33bone peripheral neuroepithelioma10.3
34neuronitis10.3
35cauda equina syndrome10.3
36extraosseous ewing's sarcoma10.3
37facial paralysis10.3
38thyroiditis10.3
39hemangioendothelioma10.3
40epithelioid hemangioendothelioma10.3
41extraosseous ewings sarcoma-primitive neuroepithelial tumor10.3
42hemangioma10.3FLI1
43embryonal rhabdomyosarcoma10.3EWSR1, DES
44dedifferentiated liposarcoma10.3MDM2, DES
45spindle cell carcinoma10.3DES, MUC1
46secretory meningioma10.3MUC1, PSG2
47spindle cell sarcoma10.3DES, MUC1
48uterine sarcoma10.3DES, MDM2
49sertoli cell tumor10.3DES, MUC1
50clear cell sarcoma10.2ATF1, EWSR1

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

About this section


Clinical features from OMIM:

612219

HPO human phenotypes related to Peripheral Primitive Neuroectodermal Tumor:

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

Drugs & Therapeutics for Peripheral Primitive Neuroectodermal Tumor

About this section

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-RT40:

Genetic Tests for Peripheral Primitive Neuroectodermal Tumor

About this section

Anatomical Context for Peripheral Primitive Neuroectodermal Tumor

About this section

MalaCards organs/tissues related to Peripheral Primitive Neuroectodermal Tumor:

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

Animal Models for Peripheral Primitive Neuroectodermal Tumor or affiliated genes

About this section

MGI Mouse Phenotypes related to Peripheral Primitive Neuroectodermal Tumor:

36
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

About this section

Articles related to Peripheral Primitive Neuroectodermal Tumor:

(show top 50)    (show all 125)
idTitleAuthorsYear
1
Congenital Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor: A Case Report and Review of the Literature. (24480101)
2014
2
Intracranial ewings sarcoma/peripheral primitive neuroectodermal tumor. (25237951)
2014
3
Peripheral primitive neuroectodermal tumor of the dura in a 51-year-old woman following intensive treatment for breast cancer. (25045413)
2014
4
Primary peripheral primitive neuroectodermal tumor of the mandible. (24205482)
2013
5
Spinal Dumbbell-Shaped Peripheral Primitive Neuroectodermal Tumor in a Child. (24401730)
2013
6
Peripheral primitive neuroectodermal tumor in a two-year-old paint horse. (22621943)
2012
7
Peripheral primitive neuroectodermal tumor of the pleura in a 41-year-old female. (22821316)
2012
8
Paravaginal peripheral primitive neuroectodermal tumor: A rare tumor. (22557788)
2011
9
Giant peripheral primitive neuroectodermal tumor of the mons pubis: a case report. (20882290)
2011
10
Peripheral primitive neuroectodermal tumor of the thymus. (21068011)
2011
11
Unusual presentation of peripheral primitive neuroectodermal tumor of the maxilla. (21119416)
2010
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
Dumbbell-shaped peripheral primitive neuroectodermal tumor of the spine--case report and review of the literature. (19050994)
2009
14
Primary epidural peripheral primitive neuroectodermal tumor of the thoracic spine. (19940407)
2009
15
Imaging findings of abdominal peripheral primitive neuroectodermal tumor: report of four cases with pathological correlation. (19411024)
2009
16
Ewing's sarcoma/peripheral primitive neuroectodermal tumor (ES/PNET) differentiation in endometrial serous carcinomas. (19318687)
2009
17
Primary peripheral primitive neuroectodermal tumor of mandible. (18376294)
2008
18
Ewing's sarcoma and peripheral primitive neuroectodermal tumor in adults: different features of a rare neoplasm. (18418019)
2008
19
Peripheral primitive neuroectodermal tumor: a rare case of peripheral facial paralysis. (17505616)
2007
20
Peripheral primitive neuroectodermal tumor/Ewing's sarcoma of the craniospinal vault: case reports and review. (16784984)
2006
21
Peripheral primitive neuroectodermal tumor with postchemotherapy neuroblastoma-like differentiation. (16944972)
2006
22
Peripheral primitive neuroectodermal tumor of bowel mesentery in adults. (16889176)
2006
23
Intracranial peripheral primitive neuroectodermal tumor manifesting as abducens nerve palsy. (15657787)
2005
24
Peripheral primitive neuroectodermal tumor of the mandible with cytogenetic and molecular biology aberrations. (16094594)
2005
25
Peripheral primitive neuroectodermal tumor of the cerebellopontine angle. (15823816)
2005
26
Analysis of chromosome abnormalities by comparative genomic hybridization in malignant peripheral primitive neuroectodermal tumor of the ovary. (14984937)
2004
27
Unique cellular features of peripheral primitive neuroectodermal tumor: ultrastructural evidence of its unique cytodifferentiation. (15449113)
2004
28
Peripheral primitive neuroectodermal tumor of the stomach in a 14-year-old boy: a case report. (15618851)
2004
29
A peripheral primitive neuroectodermal tumor with generalized bone metastases in a puppy. (15232149)
2004
30
Peripheral primitive neuroectodermal tumor after radiotherapy. (12897617)
2003
31
Peripheral primitive neuroectodermal tumor of the maxillary gingivae with metastasis to cervical lymph nodes: report of a case. (12089700)
2002
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 presenting in the retroperitoneum: a case report with immunohistochemical study. (12240569)
2002
34
Peripheral primitive neuroectodermal tumor (PPNET) of pelvic origin: report of a case arising from an unusual location. (11401207)
2001
35
Peripheral primitive neuroectodermal tumor: challenge for multimodal treatment. (11760735)
2001
36
Primary Ewing's sarcoma/peripheral primitive neuroectodermal tumor at the vertex of the skull with elevated serum carcinoembryonic antigen: case report. (11508817)
2001
37
Peripheral primitive neuroectodermal tumor with neuronal and glial differentiation: report of a case arising in suprarenal region. (11460974)
2001
38
Peripheral primitive neuroectodermal tumor of the parotid gland region: report of a case with fine-needle aspiration findings. (10679996)
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
Peripheral primitive neuroectodermal tumor: report of a case arising in the kidney. (9211963)
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

About this section

Expression for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

About this section
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

About this section

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 Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
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

About this section

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

(show all 32)
idCompoundScoreTop Affiliating Genes
1indium449.9MUC1, PSG2
2s 100449.8MUC1, DES
3metronidazole44 1110.8PSG2, MUC1
4reticulin449.8DES, MUC1
5mucicarmine449.8MUC1, DES
6chromium449.8PSG2, MUC1
7b 723449.5PSG2, MUC1, DES
8hematoxylin449.4PSG2, MUC1, DES
9trastuzumab44 50 1111.4MDM2, MUC1
10p002449.4DES, PSG2, MDM2
11gold449.4PSG2, MUC1, DES
12formaldehyde44 2410.4PSG2, MUC1, DES
135fluorouracil449.2MDM2, PSG2, MUC1
14doxorubicin44 50 1111.2DES, PSG2, MDM2
15arginine449.1DES, EWSR1, ETV4, MDM2
16actinomycin d449.0MDM2, MUC1, DES
17adriamycin449.0MDM2, PSG2, MUC1, DES
1812-o-tetradecanoylphorbol 13-acetate448.9ETV4, MUC1, ATF1, DES
19oligonucleotide448.9ATF1, EWSR1, FLI1, MDM2
20glycogen44 249.9DES, MUC1, PSG2, MDM2
21testosterone44 61 24 1111.8DES, MUC1, ETV1, MDM2
22estrogen448.8MDM2, ETV4, MUC1, DES
23estradiol44 24 1110.7MDM2, MUC1, DES
24paraffin448.7DES, EWSR1, MUC1, PSG2, MDM2
25thymidine44 249.6DES, MUC1, ETV4, PSG2, MDM2
26vegf448.6DES, MUC1, ETV4, PSG2, MDM2
27nitric oxide44 24 1110.6MDM2, PSG2, ETV4, MUC1, DES
28progesterone44 28 61 24 1112.4DES, ATF1, MUC1, ETV4, MDM2
29glucose448.4DES, ATF1, MUC1, PSG2
30tyrosine448.3DES, EWSR1, MUC1, ETV1, ETV4, MDM2
31cyclic amp44 249.2DES, ATF1, EWSR1, MUC1, ETV4, MDM2
32serine447.5MDM2, DES, ATF1, EWSR1, FLI1, MUC1

GO Terms for genes affiliated with Peripheral Primitive Neuroectodermal Tumor

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Peripheral Primitive Neuroectodermal Tumor

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet