PTPR
MCID: PPL050
MIFTS: 38

Papillary Tumor of the Pineal Region (PTPR)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Papillary Tumor of the Pineal Region

MalaCards integrated aliases for Papillary Tumor of the Pineal Region:

Name: Papillary Tumor of the Pineal Region 59
Ptpr 59

Characteristics:

Orphanet epidemiological data:

59
papillary tumor of the pineal region
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA251915
ICD10 via Orphanet 34 D44.5
UMLS via Orphanet 74 C2985219

Summaries for Papillary Tumor of the Pineal Region

MalaCards based summary : Papillary Tumor of the Pineal Region, also known as ptpr, is related to pineal gland cancer and pineocytoma. An important gene associated with Papillary Tumor of the Pineal Region is ENO2 (Enolase 2), and among its related pathways/superpathways are Neuroscience and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Gemcitabine and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include pineal, brain and kidney, and related phenotypes are hydrocephalus and nystagmus

Wikipedia : 76 Papillary tumors of the pineal region (PTPR) were first described by A. Jouvet et al. in 2003 and were... more...

Related Diseases for Papillary Tumor of the Pineal Region

Diseases related to Papillary Tumor of the Pineal Region via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 208)
# Related Disease Score Top Affiliating Genes
1 pineal gland cancer 31.5 ENO2 SYP
2 pineocytoma 31.5 ENO2 SYP
3 oncocytoma 29.9 MUC1 SYP VIM
4 pineoblastoma 10.9
5 myoepithelioma 10.2 S100A1 VIM
6 malignant ectomesenchymoma 10.2 ENO2 S100A1
7 chondromyxoid fibroma 10.2 S100A1 VIM
8 neurilemmoma 10.2 ENO2 VIM
9 bednar tumor 10.2 ENO2 VIM
10 primitive neuroectodermal tumor of the cervix uteri 10.2 ENO2 VIM
11 epulis 10.2 ENO2 VIM
12 epithelioid leiomyosarcoma 10.2 ENO2 VIM
13 chondrosarcoma, extraskeletal myxoid 10.2 ENO2 SYP
14 paraganglioma 10.2 ENO2 SYP
15 peripheral nervous system neoplasm 10.2 ENO2 SYP
16 adrenal rest tumor 10.2 ENO2 SYP
17 sweat gland cancer 10.2 ENO2 SYP
18 central nervous system cancer 10.2 ENO2 SYP
19 lung benign neoplasm 10.2 ENO2 SYP
20 adrenal carcinoma 10.2 ENO2 SYP
21 adult medulloblastoma 10.2 ENO2 SYP
22 large cell carcinoma 10.2 ENO2 SYP
23 pineal parenchymal tumor of intermediate differentiation 10.2 ENO2 SYP
24 carotid body cancer 10.1 ENO2 SYP
25 malignant sertoli cell tumor 10.1 ENO2 SYP
26 urinary bladder small cell neuroendocrine carcinoma 10.1 ENO2 SYP
27 auditory system cancer 10.1 ENO2 SYP
28 gallbladder small cell carcinoma 10.1 ENO2 SYP
29 small cell carcinoma 10.1 ENO2 SYP
30 pancreatic somatostatinoma 10.1 ENO2 SYP
31 cutaneous ganglioneuroma 10.1 ENO2 SYP
32 ganglioneuroma 10.1 ENO2 SYP
33 extrahepatic bile duct adenocarcinoma 10.1 ENO2 SYP
34 small cell carcinoma of the bladder 10.1 ENO2 SYP
35 sensory organ benign neoplasm 10.1 ENO2 SYP
36 orbital cancer 10.1 ENO2 SYP
37 pulmonary large cell neuroendocrine carcinoma 10.1 ENO2 SYP
38 large cell neuroendocrine carcinoma 10.1 ENO2 SYP
39 atypical follicular adenoma 10.1 ENO2 SYP
40 central nervous system primitive neuroectodermal neoplasm 10.1 ENO2 SYP
41 cerebral neuroblastoma 10.1 ENO2 SYP
42 cauda equina neoplasm 10.1 ENO2 SYP
43 endometrial small cell carcinoma 10.1 ENO2 SYP
44 extraosseous chondrosarcoma 10.1 ENO2 SYP
45 subependymal glioma 10.1 ENO2 SYP
46 papillary ependymoma 10.1 ENO2 SYP
47 malignant teratoma 10.1 ENO2 SYP
48 teratoma 10.1 ENO2 SYP
49 cerebral ventricle cancer 10.1 ENO2 SYP
50 primary hepatic neuroendocrine carcinoma 10.1 SYP VIM

Graphical network of the top 20 diseases related to Papillary Tumor of the Pineal Region:



Diseases related to Papillary Tumor of the Pineal Region

Symptoms & Phenotypes for Papillary Tumor of the Pineal Region

Human phenotypes related to Papillary Tumor of the Pineal Region:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
2 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
3 diplopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000651
4 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
5 increased intracranial pressure 59 32 hallmark (90%) Very frequent (99-80%) HP:0002516
6 hearing abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000364
7 memory impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002354
8 difficulty walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0002355
9 headache 59 32 hallmark (90%) Very frequent (99-80%) HP:0002315
10 increased csf protein 59 32 frequent (33%) Frequent (79-30%) HP:0002922
11 episodic ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002131
12 altitudinal visual field defect 59 32 frequent (33%) Frequent (79-30%) HP:0030531
13 cognitive impairment 59 Frequent (79-30%)
14 abnormality of the eyelid 59 Frequent (79-30%)
15 abnormal eyelid morphology 32 frequent (33%) HP:0000492

MGI Mouse Phenotypes related to Papillary Tumor of the Pineal Region:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.1 BRAF ENO2 MAP2 S100A1 SYP VIM

Drugs & Therapeutics for Papillary Tumor of the Pineal Region

Drugs for Papillary Tumor of the Pineal Region (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 1 95058-81-4 60750
2
Lenograstim Approved, Investigational Phase 1 135968-09-1
3
Trametinib Approved Phase 1 871700-17-3 11707110
4 Immunologic Factors Phase 1
5 Antiviral Agents Phase 1
6 Immunosuppressive Agents Phase 1
7 Protein Kinase Inhibitors Phase 1
8 Anti-Infective Agents Phase 1
9 Adjuvants, Immunologic Phase 1
10 Antimetabolites, Antineoplastic Phase 1
11 Antimetabolites Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib

Search NIH Clinical Center for Papillary Tumor of the Pineal Region

Genetic Tests for Papillary Tumor of the Pineal Region

Anatomical Context for Papillary Tumor of the Pineal Region

MalaCards organs/tissues related to Papillary Tumor of the Pineal Region:

41
Pineal, Brain, Kidney, Bone, Cervix, Thymus, Cerebellum

Publications for Papillary Tumor of the Pineal Region

Articles related to Papillary Tumor of the Pineal Region:

(show top 50) (show all 56)
# Title Authors Year
1
Papillary tumor of the pineal region: Case report and review of the literature. ( 29691144 )
2018
2
Papillary tumor of the pineal region in children: presentation of a case and comprehensive literature review. ( 29906576 )
2018
3
Papillary tumor of the pineal region accompanied by Parinaud's syndrome: magnetic resonance imaging findings. ( 29991845 )
2018
4
Recurrent Pineocytomalike Papillary Tumor of The Pineal Region: A Case Report and Literature Review. ( 30165231 )
2018
5
Durable response to mTOR inhibition in a patient with relapsing papillary tumor of the pineal region. ( 30295836 )
2018
6
Nuclear CRX and FOXJ1 Expression Differentiates Non-Germ Cell Pineal Region Tumors and Supports the Ependymal Differentiation of Papillary Tumor of the Pineal Region. ( 28719464 )
2017
7
Loss-of-function of PTPR γ and ζ, observed in sporadic schizophrenia, causes brain region-specific deregulation of monoamine levels and altered behavior in mice. ( 28025742 )
2017
8
Papillary Tumor of the Pineal Region: A Distinct Molecular Entity. ( 26113311 )
2016
9
Late dissemination via cerebrospinal fluid of papillary tumor of the pineal region: a case report and literature review. ( 27179224 )
2016
10
Increased VEGF levels in one case of papillary tumor of the pineal region with intracranial haemorrhage at presentation: a potential surrogate indicator of tumor angiogenesis and aggressiveness? ( 26745494 )
2016
11
Cytologic features of papillary tumor of the pineal region: A case report showing tigroid background. ( 27535020 )
2016
12
A case of papillary tumor of the pineal region with a long clinical history: molecular characterization and therapeutic consideration with review of the literature. ( 27472995 )
2016
13
Long-term follow-up of a papillary tumor of the pineal region: addendum to a case report. ( 27568037 )
2016
14
Papillary tumor of the pineal region with extended clinical and radiologic follow-up. ( 26539320 )
2015
15
Lack of BRAF-V600E Mutation in Papillary Tumor of the Pineal Region. ( 26125673 )
2015
16
Papillary tumor of the pineal region-report of three cases with literature review. ( 26238893 )
2015
17
Papillary tumor of the pineal region presenting with Foster Kennedy sign. ( 26183673 )
2015
18
Papillary tumor of the pineal region: A case report and review of the literature. ( 26622493 )
2015
19
Papillary tumor of the pineal region: Histopathological characterization and review of the literature. ( 24556386 )
2015
20
Papillary tumor of the pineal region with synchronous suprasellar focus and novel cytogenetic features. ( 26068071 )
2015
21
Outcomes After Surgery and Radiotherapy for Papillary Tumor of the Pineal Region. ( 25749579 )
2015
22
Papillary Tumor of the Pineal Region: MR Signal Intensity Correlated to Histopathology. ( 25688307 )
2015
23
No 5-ALA fluorescence seen in a recurrent papillary tumour of the pineal region (PTPR). ( 25520052 )
2015
24
Papillary tumor of the pineal region. Report of two cases and literature review. ( 25440015 )
2014
25
Stereotactic radiosurgery of a papillary tumor of the pineal region: case report and review of the literature. ( 23446182 )
2013
26
Bevacizumab is Effective for Recurrent Papillary Tumor of the Pineal Region: First Report. ( 24019784 )
2013
27
Papillary tumor of the pineal region with anaplastic small cell component. ( 23817812 )
2013
28
Papillary tumor of the pineal region: a case involving isocitrate dehydrogenase (IDH) genotyping. ( 22466620 )
2013
29
Early treatment response of a rare papillary tumor of the pineal region after primary proton-beam therapy using the raster-scanning technique at HIT. ( 23235766 )
2012
30
Complete regression of papillary tumor of the pineal region after radiation therapy: case report and review of the literature. ( 22086239 )
2012
31
Four-year clinical and neuroradiological follow-up of a papillary tumor of the pineal region. ( 22124853 )
2012
32
Papillary tumor of the pineal region. ( 22275792 )
2012
33
Papillary tumor of the pineal region: ultrastructural study of a case. ( 22292738 )
2012
34
Spinal metastasis of papillary tumor of the pineal region. ( 21109346 )
2011
35
Papillary tumor of the pineal region in a 15-month-old boy. ( 21529195 )
2011
36
Papillary tumor of the pineal region. ( 21629978 )
2011
37
Adjuvant temozolomide chemotherapy for treatment of papillary tumor of the pineal region. ( 21839968 )
2011
38
Papillary tumor of the pineal region: two case studies and a review of the literature. ( 21844577 )
2011
39
Common molecular cytogenetic pathway in papillary tumors of the pineal region (PTPR). ( 21470326 )
2011
40
Natural history of papillary tumor of the pineal region: new insights on biological explanation. ( 20454919 )
2010
41
Clinicopathological features from long-term observation of a papillary tumor of the pineal region (PTPR): a case report. ( 19856220 )
2009
42
Papillary tumor of the pineal region--a recently described entity: a report of three cases and review of the literature. ( 19642509 )
2009
43
Papillary tumor of the pineal region: report of a rapidly progressive tumor with possible multicentric origin. ( 19037636 )
2009
44
Neuroradiological follow-up of the growth of papillary tumor of the pineal region: a case report. ( 19517065 )
2009
45
Papillary tumor of the pineal region. ( 19667327 )
2009
46
Successful treatment of neoadjuvant therapy for papillary tumor of the pineal region. ( 19856218 )
2009
47
Papillary tumor of the pineal region of a dog. ( 19901302 )
2009
48
Papillary tumor of the pineal region: a case report. ( 18987834 )
2008
49
MR imaging of papillary tumor of the pineal region. ( 17925365 )
2008
50
Papillary tumor of the pineal region in a child: case report and review of the literature. ( 17960392 )
2008

Variations for Papillary Tumor of the Pineal Region

Expression for Papillary Tumor of the Pineal Region

Search GEO for disease gene expression data for Papillary Tumor of the Pineal Region.

Pathways for Papillary Tumor of the Pineal Region

Pathways related to Papillary Tumor of the Pineal Region according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.67 ENO2 MAP2 SYP
2 10.7 MAP2 SYP VIM

GO Terms for Papillary Tumor of the Pineal Region

Cellular components related to Papillary Tumor of the Pineal Region according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.02 BRAF MAP2 S100A1 SYP VIM

Biological processes related to Papillary Tumor of the Pineal Region according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to organic substance GO:0071310 8.62 MAP2 SYP

Molecular functions related to Papillary Tumor of the Pineal Region according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.92 BRAF S100A1 SYP VIM

Sources for Papillary Tumor of the Pineal Region

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74 UMLS via Orphanet
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