MCID: PNB001
MIFTS: 46

Pineoblastoma malady

Rare diseases, Neuronal diseases, Cancer diseases categories
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Summaries for Pineoblastoma

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NIH Rare Diseases:42 Pineoblastoma is a cancerous (malignant) tumor that develops in the pineal gland.  the pineal gland is located in the brain and makes the hormone melatonin to regulate the body's sleep patterns.  pineoblastoma is a type of primitive neuroectodermal tumor (pnet).  pineoblastoma mainly affects children, but can also occur in adults.  treatment of pineoblastoma includes surgery to remove as much of the tumor as possible, followed by radiation therapy and chemotherapy. last updated: 12/15/2011

MalaCards based summary: Pineoblastoma, also known as pineal pnet, is related to pineocytoma and retinoblastoma. An important gene associated with Pineoblastoma is ASMT (acetylserotonin O-methyltransferase), and among its related pathways is Neuroscience. The compounds n-acetylaspartate and s 100 have been mentioned in the context of this disorder. Affiliated tissues include the brain, pineal and brain, and related mouse phenotypes are nervous system and normal.

Disease Ontology:8 A pineal gland neoplasm located in the brain.

Wikipedia:65 Pineoblastoma (also pinealoblastoma) is a malignant tumor of the pineal gland. A pineoblastoma is a... more...

Aliases & Classifications for Pineoblastoma

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 57SNOMED-CT, 39NCIt, 63UMLS via Orphanet
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Pineoblastoma, Aliases & Descriptions:

Name: Pineoblastoma 8 42 10 44 48 62
 
Pineal Pnet 8


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
pineoblastoma:
Age of onset: Childhood; Age of death: Child / adolescent


External Ids:

Disease Ontology8 DOID:1664
MeSH34 D010871
SNOMED-CT57 31671006
NCIt39 C9344
UMLS via Orphanet63 C0205898

Related Diseases for Pineoblastoma

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Diseases in the Pineoblastoma family:

Adult Pineoblastoma

Diseases related to Pineoblastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1pineocytoma30.6GFAP, SAG, ASMT, SYP
2retinoblastoma30.5GFAP, TP53, SAG, ASMT, SYP
3medulloblastoma30.1SYP, SAG, TP53, GFAP
4astrocytoma29.9GFAP, TP53, SYP
5dysembryoplastic neuroepithelial tumor10.5SYP
6giant cell glioblastoma10.5GFAP
7melanotic neuroectodermal tumor10.5SYP
8gemistocytic astrocytoma10.5GFAP
9endophthalmitis10.5SAG
10gliomatosis cerebri10.5GFAP
11gliosarcoma10.4GFAP
12pineoblastoma, childhood10.4
13subependymal giant cell astrocytoma10.4SYP, GFAP
14papillary ependymoma10.4SYP, GFAP
15binswanger's disease10.4SYP, GFAP
16central neurocytoma10.4SYP, GFAP
17meningioma10.4GFAP, SYP
18hemangioblastoma10.3SYP, GFAP
19ganglioglioma10.3SYP, GFAP
20germinoma10.3POU5F1, CGA
21ganglioneuroma10.3GFAP, SYP
22dysgerminoma10.3POU5F1, CGA
23placental site trophoblastic tumor10.3CGA, LNPEP
24pilocytic astrocytoma10.3GFAP, SYP
25trophoblastic neoplasm10.3CGA, LNPEP
26ependymoma10.3GFAP, SYP
27choroid plexus papilloma10.2TP53, GFAP
28paraganglioma10.2SYP, GFAP
29neuroectodermal tumor10.2
30adult pineoblastoma10.2
31trilateral retinoblastoma10.2
32tuberous sclerosis10.2SYP, GFAP
33gestational trophoblastic neoplasm10.2LNPEP, CGA
34teratoma10.2GFAP, POU5F1, CGA
35pituitary adenoma10.2CGA, SYP, POU5F1
36chordoid glioma10.2RFX3, ZFHX4
37seminoma10.2CGA, POU5F1, LNPEP
38oligodendroglioma10.2GFAP, TP53, SYP
39unilateral retinoblastoma10.1
40adrenocortical carcinoma10.1TP53, SYP
41malignant glioma10.1GFAP, TP53, SYP
42brain cancer10.1SYP, TP53, GFAP
43bilateral retinoblastoma10.0
44familial adenomatous polyposis10.0
45medulloepithelioma10.0
46supratentorial primitive neuroectodermal tumor10.0
47neuronitis10.0
48aspergillosis10.0
49peritonitis10.0
50rhabdomyosarcoma10.0

Graphical network of the top 20 diseases related to Pineoblastoma:



Diseases related to pineoblastoma

Symptoms for Pineoblastoma

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Drugs & Therapeutics for Pineoblastoma

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Drug clinical trials:

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Search NIH Clinical Center for Pineoblastoma

Genetic Tests for Pineoblastoma

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Anatomical Context for Pineoblastoma

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MalaCards organs/tissues related to Pineoblastoma:

32
Pineal, Brain, Bone, Spinal cord

FMA organs/tissues related to Pineoblastoma:

14
The brain

Animal Models for Pineoblastoma or affiliated genes

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MGI Mouse Phenotypes related to Pineoblastoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.0TP53, POU5F1, SAG, SYP, CADPS, CGA
2MP:00028737.6SYP, FAM129A, RFX3, POU5F1, TP53, GFAP

Publications for Pineoblastoma

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Articles related to Pineoblastoma:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
From a Suspicious Cystic Pineal Gland to Pineoblastoma in a Patient with Familial Unilateral Retinoblastoma. (24940935)
2014
2
Incidence of pineal gland cyst and pineoblastoma in children with retinoblastoma during the chemoreduction era. (23876864)
2013
3
Donor transmission of pineoblastoma in a two-yr-old male recipient of a multivisceral transplant: a case report. (21281415)
2012
4
Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma. (22717647)
2012
5
The long-term postsurgical prognosis of patients with pineoblastoma. (21717450)
2012
6
Contemporary management of pineoblastoma. (21801990)
2011
7
Genome-wide molecular characterization of central nervous system primitive neuroectodermal tumor and pineoblastoma. (21798848)
2011
8
Post-chemotherapy maturation of a pineoblastoma. (20224924)
2010
9
Severe cytomegalic pneumonitis associated with pulmonary aspergillosis in a child with immunosuppression due to chemotherapy for treating pineoblastoma. (19287944)
2009
10
Response of an adult patient with pineoblastoma to vorinostat and retinoic acid. (19506816)
2009
11
Outcome of pediatric pineoblastoma after surgery, radiation and chemotherapy. (18415046)
2008
12
Diffusion-weighted MR images and pineoblastoma: diagnosis and follow-up. (18392417)
2008
13
Congenital pineoblastoma and parameningeal rhabdomyosarcoma: concurrent two embryonal tumors in a young infant. (16283194)
2006
14
Cytogenetics of pineoblastoma: four new cases and a literature review. (17011992)
2006
15
Molecular genetics of supratentorial primitive neuroectodermal tumors and pineoblastoma. (16398467)
2005
16
Osseous metastasis of pineoblastoma: a case report and review of the literature. (16078108)
2005
17
Pineal parenchymal tumours: II. On the aggressive behaviour of pineoblastoma in patients with an inherited mutation of the RB1 gene. (15214647)
2004
18
Pathologic quiz case: a 15-year-old girl with an intracranial midline mass. Pineoblastoma, World Health Organization Grade IV. (15163221)
2004
19
Pathology case of the month. Tumor of the pineal region. Pineoblastoma, recurrent. (15233382)
2004
20
Surgical treatment of a mixed pineocytoma/pineoblastoma in a 72-year-old patient. (12021888)
2002
21
Detection of a pineoblastoma with large central cyst in a young child. (11981625)
2002
22
Vertebral metastases from pineoblastoma. (11419982)
2001
23
Long-term survival following extra-neural metastasis from a pineoblastoma. (11083078)
2000
24
Non-resective management of pineoblastoma. (11108118)
2000
25
Neuroradiological characteristics of pineocytoma and pineoblastoma. (10952183)
2000
26
F-18 FDG PET scan of a metastatic pineoblastoma. (10069738)
1999
27
A new pineoblastoma cell line, PER-480, with der(10)t(10;17), der(16)t(1;16), and enhanced MYC expression in the absence of gene amplification. (9428362)
1998
28
Pineoblastoma presenting in familial adenomatous polyposis (FAP): random association, FAP variant or Turcot syndrome? (10070471)
1998
29
Treatment of patients with pineoblastoma with high dose cyclophosphamide. (8614374)
1996
30
Pineoblastoma in adults. (7501100)
1995
31
Lack of efficacy of postoperative chemotherapy and delayed radiation in very young children with pineoblastoma. Pediatric Oncology Group. (7753001)
1995
32
A case of pineoblastoma successfully treated with surgery, combined chemotherapy of cisplatin and etoposide, and radiotherapy]. (7477703)
1995
33
Pineoblastoma imaged during bone scintigraphy. (8565362)
1995
34
Nonresective treatment of pineoblastoma: a case report. (8553260)
1995
35
Enhanced MYCN expression and isochromosome 17q in pineoblastoma cell lines. (7513543)
1994
36
Response to neoadjuvant chemotherapy in children with pineoblastoma. (8348511)
1993
37
Successful combination chemotherapy (cisplatin, vinblastine, and bleomycin) with small-dose irradiation in the treatment of pineoblastoma metastasized into spinal cord: case report. (7688912)
1993
38
Metastatic pineoblastoma via a ventriculoperitoneal shunt: CT demonstration. (1394082)
1992
39
Concurrent benign teratoid medulloepithelioma and pineoblastoma. (1513537)
1992
40
Implantation metastasis of pineoblastoma after stereotactic biopsy. Case report. (2195142)
1990
41
Phase II treatment of medulloblastoma and pineoblastoma with melphalan: clinical therapy based on experimental models of human medulloblastoma. (2738624)
1989
42
Pineoblastoma in a cockatiel. (3196277)
1988
43
Familial pineoblastoma. Report of two cases. (3998847)
1985
44
Concurrent pineoblastoma and unilateral retinoblastoma: a forme fruste of trilateral retinoblastoma? (4047365)
1985
45
Trilateral retinoblastoma. Pineoblastoma (ectopic intracranial retinoblastoma) associated with bilateral retinoblastoma. (6544387)
1984
46
Pineoblastoma, a primitive neuroectodermal tumor in the brain of a horse. (7147618)
1982
47
Pineoblastoma with ganglionic and glial differentiation: report of two cases. (7349581)
1981
48
The separation of pineocytoma from pineoblastoma. (6986979)
1980
49
Pineoblastoma: an electron microscopic study. (498040)
1979
50
Pineoblastoma with spontaneous intra and extracranial metastasis. (4548088)
1974

Variations for Pineoblastoma

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Expression for genes affiliated with Pineoblastoma

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Expression patterns in normal tissues for genes affiliated with Pineoblastoma

Search GEO for disease gene expression data for Pineoblastoma.

Pathways for genes affiliated with Pineoblastoma

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Pathways related to Pineoblastoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SYP, SAG, GFAP

Compounds for genes affiliated with Pineoblastoma

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Compounds related to Pineoblastoma according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1n-acetylaspartate4410.3GFAP, SYP
2s 1004410.3GFAP, SYP
3reticulin4410.2GFAP, SYP
48-bromo-cyclic amp4410.2GFAP, CGA
5letrozole44 50 61 1113.1CGA, SYP
6bcnu4410.0TP53, GFAP
7dutp449.8GFAP, SYP, TP53
85-hydroxytryptamine449.8SAG, ASMT, GFAP, SYP
9guanine44 24 1111.8SAG, TP53, SYP
10cystine449.7CGA, LNPEP
11dbc-amp449.7CGA, ASMT, GFAP, SYP
12butyrate449.7TP53, ASMT, GFAP
13etoposide44 50 61 1112.6TP53, SYP, CGA
14sucrose44 24 1111.6LNPEP, SAG, SYP
15streptozotocin449.6GFAP, SYP
16acth449.6SYP, GFAP, LNPEP
17acetylcholine44 50 28 24 1113.5SYP, CGA, GFAP
18glutamate449.5CGA, SYP, SAG, GFAP
19cyclic amp44 2410.4GFAP, SAG, ASMT, CGA, SYP
20norepinephrine44 24 1111.4POU5F1, SYP, CADPS, CGA
21carboplatin44 50 1111.4LNPEP, CGA, TP53
22leucine449.4LNPEP, GFAP, SAG, SYP
23glycogen44 2410.3LNPEP, GFAP, SYP
24forskolin44 50 1111.3LNPEP, SYP, GFAP, CGA
25paraffin449.3TP53, SAG, SYP, CGA, GFAP
26paclitaxel44 50 1111.2LNPEP, TP53, GFAP
27vegf449.2SYP, CGA, GFAP, TP53, POU5F1
28cycloheximide449.1TP53, CGA, GFAP, LNPEP
29alanine449.0LNPEP, GFAP, SAG, CGA
30arginine449.0GFAP, LNPEP, CGA, TP53
31dopamine44 28 24 1111.9GFAP, POU5F1, SAG, SYP, CADPS, CGA
32cisplatin44 50 61 1111.9GFAP, TP53, CGA, LNPEP, SYP
33progesterone44 28 61 24 1112.9LNPEP, CGA, GFAP, SYP, TP53
34serine448.9GFAP, CGA, TP53, SYP, SAG

GO Terms for genes affiliated with Pineoblastoma

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Cellular components related to Pineoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058297.8CADPS, ASMT, SAG, POU5F1, TP53, GFAP

Biological processes related to Pineoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to woundingGO:0096119.9POU5F1, GFAP
2positive regulation of transcription from RNA polymerase II promoterGO:0459448.7CGA, RFX3, POU5F1, TP53

Molecular functions related to Pineoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.3RFX3, POU5F1, TP53

Products for genes affiliated with Pineoblastoma

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Sources for Pineoblastoma

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