MCID: PNB001
MIFTS: 50

Pineoblastoma

Categories: Cancer diseases, Endocrine diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pineoblastoma

MalaCards integrated aliases for Pineoblastoma:

Name: Pineoblastoma 12 52 58 54 6 15 17 71
Tumor of the Pineal Region 71
Pineal Gland Neoplasm 71
Pineal Pnet 12
Pineocytoma 71
Pinealoma 43

Characteristics:

Orphanet epidemiological data:

58
pineoblastoma
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adolescent,late childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:1664
MeSH 43 D010871
NCIt 49 C9344
SNOMED-CT 67 31671006
ICD10 via Orphanet 33 C75.3
UMLS via Orphanet 72 C0205898
Orphanet 58 ORPHA251909
UMLS 71 C0031941 C0205898 C0917890 more

Summaries for Pineoblastoma

NIH Rare Diseases : 52 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 .

MalaCards based summary : Pineoblastoma, also known as tumor of the pineal region, is related to obstructive hydrocephalus and brain germinoma. An important gene associated with Pineoblastoma is DICER1 (Dicer 1, Ribonuclease III), and among its related pathways/superpathways is DDX1 as a regulatory component of the Drosha microprocessor. The drugs Temozolomide and Donepezil have been mentioned in the context of this disorder. Affiliated tissues include brain, pineal and liver, and related phenotypes are pinealoma and headache

Disease Ontology : 12 A pineal gland neoplasm located in the brain.

Wikipedia : 74 Pinealoblastoma is a malignant tumor of the pineal gland. A pinealoblastoma is a supratentorial midline... more...

Related Diseases for Pineoblastoma

Diseases in the Pineoblastoma family:

Adult Pineoblastoma

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

(show top 50) (show all 208)
# Related Disease Score Top Affiliating Genes
1 obstructive hydrocephalus 30.9 SYP GFAP AFP
2 brain germinoma 30.6 POU5F1 AFP
3 supratentorial primitive neuroectodermal tumor 30.3 SYP GFAP
4 pineocytoma 30.2 SYP SAG GFAP ASMT
5 medulloepithelioma 30.2 SYP GFAP DICER1
6 ependymoblastoma 30.2 SYP GFAP
7 teratoma 30.1 SYP POU5F1 GFAP CEACAM5 AFP
8 cerebellar medulloblastoma 30.0 SYP SAG GFAP
9 medulloblastoma 29.2 SYP SAG POU5F1 GFAP DICER1 CRX
10 pineal parenchymal tumor of intermediate differentiation 29.1 SYP PTPRS KBTBD4 DICER1 ASMT
11 pineal gland cancer 26.0 SYP SAG PTPRS PCDHGA3 OR4C12 KBTBD4
12 adult pineoblastoma 12.5
13 retinoblastoma 11.6
14 hydrocephalus 10.6
15 diabetes insipidus 10.5
16 familial retinoblastoma 10.5
17 botryoid rhabdomyosarcoma 10.5 DICER1 AFP
18 liver lipoma 10.5 CEACAM5 AFP
19 malignant sertoli-leydig cell tumor 10.5 CEACAM5 AFP
20 urachal adenocarcinoma 10.5 CEACAM5 AFP
21 gestational ovarian choriocarcinoma 10.5 CEACAM5 AFP
22 immature teratoma of ovary 10.5 CEACAM5 AFP
23 rectum signet ring adenocarcinoma 10.5 CEACAM5 AFP
24 ovarian mixed germ cell neoplasm 10.5 CEACAM5 AFP
25 germinoma 10.5
26 renal pelvis adenocarcinoma 10.5 CEACAM5 AFP
27 bile duct cystadenocarcinoma 10.5 CEACAM5 AFP
28 colonic lymphangioma 10.5 CEACAM5 AFP
29 liver lymphoma 10.5 CEACAM5 AFP
30 juvenile type testicular granulosa cell tumor 10.5 DICER1 AFP
31 adult teratoma 10.4 CEACAM5 AFP
32 testicular granulosa cell tumor 10.4 DICER1 AFP
33 thymus sarcomatoid carcinoma 10.4 SYP AFP
34 liver sarcoma 10.4 CEACAM5 AFP
35 precocious puberty 10.4
36 benign mesothelioma 10.4 CEACAM5 AFP
37 mature teratoma of the ovary 10.4 SYP AFP
38 ovarian cystic teratoma 10.4 SYP AFP
39 sarcomatous intrahepatic cholangiocarcinoma 10.4 CEACAM5 AFP
40 mucinous adenofibroma 10.4 SYP CEACAM5
41 pancreas lymphoma 10.4 SYP CEACAM5
42 dysgerminoma of ovary 10.4 LNPEP AFP
43 vulvar eccrine porocarcinoma 10.4 SYP CEACAM5
44 vulva basal cell carcinoma 10.4 SYP CEACAM5
45 papillary thymic adenocarcinoma 10.4 SYP CEACAM5
46 ovarian germ cell teratoma 10.4 SYP AFP
47 krukenberg carcinoma 10.4 SYP CEACAM5
48 vaginal tubulovillous adenoma 10.4 SYP CEACAM5
49 vaginal adenoma 10.4 SYP CEACAM5
50 endometrial small cell carcinoma 10.4 SYP AFP

Graphical network of the top 20 diseases related to Pineoblastoma:



Diseases related to Pineoblastoma

Symptoms & Phenotypes for Pineoblastoma

Human phenotypes related to Pineoblastoma:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pinealoma 58 31 obligate (100%) Obligate (100%) HP:0010799
2 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
3 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
4 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
5 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
6 progressive neurologic deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0002344
7 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
8 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
9 reduced visual acuity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007663
10 amaurosis fugax 58 31 occasional (7.5%) Occasional (29-5%) HP:0100576
11 paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003470
12 retinoblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0009919
13 papilledema 58 31 occasional (7.5%) Occasional (29-5%) HP:0001085
14 impaired convergence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000619
15 midline brain calcifications 58 31 occasional (7.5%) Occasional (29-5%) HP:0007045
16 progressive visual field defects 58 31 occasional (7.5%) Occasional (29-5%) HP:0007987
17 lethargy 58 31 very rare (1%) Very rare (<4-1%) HP:0001254
18 reduced consciousness/confusion 58 Very rare (<4-1%)
19 cognitive impairment 58 Frequent (79-30%)

Drugs & Therapeutics for Pineoblastoma

Drugs for Pineoblastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 182)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Temozolomide Approved, Investigational Phase 3 85622-93-1 5394
2
Donepezil Approved Phase 3 120014-06-4 3152
3
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
4
Ondansetron Approved Phase 3 99614-02-5 4595
5
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
6
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
7
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
8
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
9 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
10 Analgesics Phase 3
11 Central Nervous System Depressants Phase 3
12 Nootropic Agents Phase 3
13 Neurotransmitter Agents Phase 3
14 Cholinergic Agents Phase 3
15 Cholinesterase Inhibitors Phase 3
16 Cola Phase 3
17 Narcotics Phase 3
18 Anesthetics Phase 3
19 Anesthetics, General Phase 3
20 Analgesics, Opioid Phase 3
21 Adjuvants, Anesthesia Phase 3
22 Anesthetics, Intravenous Phase 3
23 Emetics Phase 3
24 Antimitotic Agents Phase 3
25 Antirheumatic Agents Phase 3
26
Levetiracetam Approved Phase 2 102767-28-2 441341
27
Pregabalin Approved, Investigational Phase 2 148553-50-8 5486971
28
Phenylacetic acid Approved Phase 2 103-82-2 999
29
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
30
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
31
Procarbazine Approved, Investigational Phase 2 671-16-9 4915
32
tannic acid Approved Phase 2 1401-55-4
33
Titanium dioxide Approved Phase 2 13463-67-7
34
Sorbitol Approved Phase 2 50-70-4 5780
35
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
36
Ethanol Approved Phase 2 64-17-5 702
37
nivolumab Approved Phase 2 946414-94-4
38
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
39
Etoposide Approved Phase 2 33419-42-0 36462
40
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
41
Dasatinib Approved, Investigational Phase 1, Phase 2 302962-49-8 3062316
42
Bevacizumab Approved, Investigational Phase 2 216974-75-3
43
Acetaminophen Approved Phase 2 103-90-2 1983
44
Iodine Approved, Investigational Phase 2 7553-56-2 807
45
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
46
Promethazine Approved, Investigational Phase 2 60-87-7 4927
47
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
48
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
49
leucovorin Approved Phase 2 58-05-9 6006 143
50
Vinblastine Approved Phase 2 865-21-4 13342 241903

Interventional clinical trials:

(show top 50) (show all 79)
# Name Status NCT ID Phase Drugs
1 Phase II Prospective Study of Sequential Myeloablative Chemotherapy With Stem Cell Rescue for the Treatment of Selected High Risk CNS Tumors and Recurrent CNS Tumors Unknown status NCT00179803 Phase 2, Phase 3
2 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Unknown status NCT01987596 Phase 3
3 Dose Intensive Chemotherapy for Children Less Than Ten Years of Age Newly-Diagnosed With Malignant Brain Tumors: A Pilot Study of Two Alternative Intensive Induction Chemotherapy Regimens, Followed by Consolidation With Myeloablative Chemotherapy (Thiotepa and Carboplatin, With or Without Etoposide) and Autologous Stem Cell Rescue [HEAD START III] Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
4 Phase III Double Blind, Placebo Controlled Study of Donepezil in the Irradiated Brain Completed NCT00369785 Phase 3 donepezil hydrochloride;Placebo
5 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
6 Randomized Controlled Trial of Acupressure to Control Chemotherapy-Induced Nausea (CIN) in Children Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
7 Treatment of Patients With Newly Diagnosed Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumor, or Atypical Teratoid Rhabdoid Tumor Active, not recruiting NCT00085202 Phase 3 cisplatin;cyclophosphamide;vincristine
8 Proton Radiation for Low Grade Gliomas Unknown status NCT01024907 Phase 1, Phase 2
9 Levetiracetam and Pregabalin for Monotherapy in Patients With Brain Tumors and Seizures. A Phase II Randomized Study. Completed NCT00629889 Phase 2 levetiracetam;pregabalin
10 Donepezil and EGb761 in Improving Neurocognitive Function in Patients Who Have Previously Undergone Radiation Therapy for Primary Brain Tumor or Brain Metastases Completed NCT00070161 Phase 2 donepezil hydrochloride
11 A Phase I/II Study of Local Field Irradiation and Temozolomide Followed by Continuous Infusion Plerixafor as an Upfront Therapy for Newly Diagnosed Glioblastoma GBM Completed NCT01977677 Phase 1, Phase 2 temozolomide;plerixafor
12 A Randomized Phase II Trial of Bevacizumab to Control Brain Radiation Damage Completed NCT00492089 Phase 2 bevacizumab;placebo
13 Phase II Trial of Phenylbutyrate Given as a Continuous Infusion in Pediatric Patients With Progressive or Recurrent CNS Malignancy Completed NCT00006450 Phase 2 Phenylbutyrate
14 Phase II Study of Methotrexate, Mechlorethamine, Vincristine, Prednisone, and Procarbazine (MMOPP) as Primary Therapy in Infants or Young Children With Primitive Neuroectodermal Tumors or High-Grade Astrocytoma Completed NCT00002463 Phase 2 MOPP Regimen;Leucovorin Calcium;Mechlorethamine Hydrochloride;Methotrexate;Prednisone;Procarbazine Hydrochloride;Vincristine Sulfate
15 Prospective Pilot Trial to Assess a Multimodal Molecular Targeted Therapy in Children, Adolescent and Young Adults With Relapsed or Refractory High-grade Pineoblastoma Recruiting NCT02596828 Phase 2 Temozolomide;Irinotecan;Dasatinib;Rapamycin
16 Phase II Trial of the Immune Checkpoint Inhibitor Nivolumab in Patients With Select Rare CNS Cancers Recruiting NCT03173950 Phase 2 Nivolumab
17 A Phase 1/2 Study of AZD1775 (MK-1775) in Combination With Oral Irinotecan in Children, Adolescents, and Young Adults With Relapsed or Refractory Solid Tumors Recruiting NCT02095132 Phase 1, Phase 2 Adavosertib;Irinotecan;Irinotecan Hydrochloride
18 Temozolomide With Irinotecan Versus Temozolomide, Irinotecan Plus Bevacizumab (NSC# 704865) for Recurrent/Refractory Medulloblastoma/CNS PNET of Childhood, a COG Randomized Phase II Screening Trial Active, not recruiting NCT01217437 Phase 2 Irinotecan Hydrochloride;Temozolomide
19 Phase II Study of Intrathecal I-3F8 in Patients With GD2-Expressing Central Nervous System and Leptomeningeal Neoplasms Active, not recruiting NCT00445965 Phase 2
20 Dasatinib With Ifosfamide, Carboplatin, Etoposide: A Pediatric Phase I/II Trial Active, not recruiting NCT00788125 Phase 1, Phase 2 carboplatin;dasatinib;etoposide phosphate;ifosfamide
21 Risk-Adapted Therapy for Young Children With Embryonal Brain Tumors, Choroid Plexus Carcinoma, High Grade Glioma or Ependymoma Active, not recruiting NCT00602667 Phase 2 Induction Chemotherapy;Low-Risk Therapy;High-Risk Therapy;Intermediate-Risk Therapy
22 Phase I/II Study of Intra-arterial Melphalan Given With Intra-arterial Carboplatin, Osmotic Blood-Brain Barrier Disruption and Delayed Otoprotective Sodium Thiosulfate for Patients With Recurrent or Progressive CNS Embryonal or Germ Cell Tumors Suspended NCT00983398 Phase 1, Phase 2 Carboplatin;Mannitol;Melphalan;Sodium Thiosulfate
23 Photodynamic Therapy For Childhood Brain Tumors, A Phase I Study Unknown status NCT00002647 Phase 1 verteporfin
24 Phase I Studies of TARCEVA™ (ERLOTINIB HYDROCHLORIDE, OSI-774) as Single Agent in Children With Refractory and Relapsed Malignant Brain Tumors and in Combination With Irradiation in Newly Diagnosed Brain Stem Glioma Unknown status NCT00360854 Phase 1 erlotinib hydrochloride
25 A Phase I Study of Bortezomib and Temozolomide in Patients With Refractory Solid Tumors Completed NCT00544284 Phase 1 bortezomib;temozolomide
26 A Pilot Feasibility, Dose-Escalation Study Using Intracerebral Microdialysis to Assess the Neuropharmacodynamics of Temsirolimus in Patients With Primary or Metastatic Brain Tumors Completed NCT00784914 Phase 1 temsirolimus
27 A Phase I Trial of Subcutaneous And/Or Oral Calcitriol [(1,25-COH)2D3] and Carboplatin in Advanced Solid Tumors Completed NCT00008086 Phase 1 carboplatin
28 A PHASE I STUDY OF THE COMBINATION OF CAI AND PACLITAXEL IN ADULT PATIENTS WITH REFRACTORY CANCERS OR LYMPHOMA Completed NCT00019019 Phase 1 carboxyamidotriazole;paclitaxel
29 A Phase I, Open-Label, Maximum Tolerated Single-Cycle and Four-Cycle Dose-Finding Study to Evaluation the Safety and Tolerability of 90Y-SMT 487 Administered by Intravenous Infusion to Subjects With Refractory Somatostatin-Receptor Positive Tumors Completed NCT00006368 Phase 1
30 Phase I Pharmacokinetic Trial of Thalidomide and Docetaxel: A Regimen Based on Anti-Angiogenic Therapeutic Principles Completed NCT00049296 Phase 1 docetaxel;thalidomide
31 Phase I Pilot Study of Stereotaxic Radiosurgery in Patients With Intracranial Neoplasms Completed NCT00019578 Phase 1
32 Phase I Study of Cilengitide (EMD 121974) in Children With Refractory Brain Tumors Completed NCT00063973 Phase 1 cilengitide
33 A Phase I Trial of CC-5013 (Lenalidomide) in Pediatric Patients With Recurrent or Refractory Primary CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
34 A Phase I Study of Vorinostat and Bortezomib in Children With Refractory or Recurrent Solid Tumors, Including CNS Tumors and Lymphomas Completed NCT00994500 Phase 1 vorinostat;bortezomib
35 A Phase I Study of SAHA and Temozolomide in Children With Relapsed or Refractory Primary Brain or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
36 A Phase I Clinical Trial of AZD2171 in Children With Recurrent or Progressive Central Nervous System (CNS) Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
37 A Phase I Study of ABT-888, an Oral Inhibitor of Poly (ADP-Ribose) Polymerase and Temozolomide in Children With Recurrent/Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
38 Dose Escalation of Temozolomide in Combination With Thiotepa and Carboplatin With Autologous Stem Cell Rescue in Patients With Malignant Brain Tumors With Minimal Residual Disease Completed NCT00025558 Phase 1 carboplatin;temozolomide;thiotepa
39 Phase I and Pharmacokinetic Trial of PTC299 in Pediatric Patients With Refractory or Recurrent CNS Tumors Completed NCT01158300 Phase 1 VEGF inhibitor PTC299
40 Phase I Trial of Temozolomide and O6-Benzylguanine in Pediatric Patients With Recurrent Brain Tumors Completed NCT00052780 Phase 1 O6-benzylguanine;temozolomide
41 Phase 1 Trial of RO4929097 in Combination With Standard Radiotherapy and Temozolomide for Newly Diagnosed Malignant Glioma: A Pharmacokinetic and Pharmacodynamic Study Completed NCT01119599 Phase 1 Gamma-Secretase Inhibitor RO4929097;Temozolomide
42 Phase I and Pharmacokinetic Study of Enzastaurin (LY317615) in Children and Adolescents With Refractory Primary CNS Tumors Completed NCT00503724 Phase 1 enzastaurin hydrochloride
43 A Phase 1 Study of Imetelstat, a Telomerase Inhibitor, in Children With Refractory or Recurrent Solid Tumors and Lymphomas Completed NCT01273090 Phase 1 imetelstat sodium
44 Phase 1 Study of EGFR806-specific CAR T Cell Locoregional Immunotherapy for EGFR-positive Recurrent or Refractory Pediatric Central Nervous System Tumors Recruiting NCT03638167 Phase 1
45 Phase 1 Study of B7-H3-Specific CAR T Cell Locoregional Immunotherapy for Diffuse Intrinsic Pontine Glioma/Diffuse Midline Glioma and Recurrent or Refractory Pediatric Central Nervous System Tumors Recruiting NCT04185038 Phase 1
46 Phase 1 Study of HER2-Specific CAR T Cell Locoregional Immunotherapy for HER2 Positive Recurrent/Refractory Pediatric Central Nervous System Tumors Recruiting NCT03500991 Phase 1
47 Molecularly-Driven Doublet Therapy for All Children With Refractory or Recurrent CNS Malignant Neoplasms and Young Adults With Refractory or Recurrent SHH Medulloblastoma Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib
48 A Phase 1 Study of Entinostat, an Oral Histone Deacetylase Inhibitor, in Pediatric Patients With Recurrent or Refractory Solid Tumors, Including CNS Tumors and Lymphoma Active, not recruiting NCT02780804 Phase 1 Entinostat
49 A Feasibility Study of Vorinostat (SAHA) Combined With Isotretinoin and Chemotherapy in Infants With Embryonal Tumors of the Central Nervous System Active, not recruiting NCT00867178 Phase 1 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide Phosphate;Isotretinoin;Thiotepa;Vincristine Sulfate;Vorinostat
50 Pilot Study of High-Dose Chemotherapy With Busulfan, Melphalan, and Topotecan Followed by Autologous Hematopoietic Stem Cell Transplant in Advanced Stage and Recurrent Tumors Active, not recruiting NCT00638898 Phase 1 busulfan;melphalan;topotecan hydrochloride

Search NIH Clinical Center for Pineoblastoma

Cochrane evidence based reviews: pinealoma

Genetic Tests for Pineoblastoma

Anatomical Context for Pineoblastoma

The Foundational Model of Anatomy Ontology organs/tissues related to Pineoblastoma:

19
Brain

MalaCards organs/tissues related to Pineoblastoma:

40
Pineal, Brain, Liver, T Cells, Spinal Cord, Ovary, Pituitary

Publications for Pineoblastoma

Articles related to Pineoblastoma:

(show top 50) (show all 454)
# Title Authors PMID Year
1
Pineal parenchymal tumor of intermediate differentiation showing malignant progression at relapse. 54 61
19170892 2009
2
Microarray analysis reveals differential gene expression patterns in tumors of the pineal region. 54 61
16825954 2006
3
Histological analysis of lesions of the pineal region: a retrospective study of 12 years. 54 61
16413691 2006
4
OCT4 immunohistochemistry is superior to placental alkaline phosphatase (PLAP) in the diagnosis of central nervous system germinoma. 54 61
15725806 2005
5
Demonstration of hydroxyindole-O-methyltransferase (HIOMT) mRNA expression in pineal parenchymal tumors: histochemical in situ hybridization. 54 61
10831155 2000
6
Tumors of pineal parenchymal cells: a correlation of histological features, including nucleolar organizer regions, with survival in 35 cases. 54 61
7821912 1995
7
Differential expression of retinal proteins in a pineal parenchymal tumor. 54 61
8360704 1993
8
Treatment of pediatric high-grade central nervous system tumors with high-dose methotrexate in combination with multiagent chemotherapy: A single-institution experience. 61
31850678 2020
9
Molecular characterization of histopathological ependymoma variants. 61
31679042 2020
10
Correction to: Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials. 61
31865440 2020
11
Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials. 61
31802236 2020
12
Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study. 61
31820118 2020
13
Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations. 61
31768671 2020
14
Pediatric embryonal brain tumors in the molecular era. 61
31917601 2020
15
Tandem high-dose chemotherapy with topotecan-thiotepa-carboplatin and melphalan-etoposide-carboplatin regimens for pediatric high-risk brain tumors. 61
31352632 2019
16
[Role of CT in diagnosis and monitoring of retinoblastoma in Senegal]. 61
31561918 2019
17
Radiotherapy for papillary tumor of the pineal region: A systematic review of the literature. 61
31896492 2019
18
Pineoblastoma in Adults: A Rare Case Successfully Treated with Multimodal Approach Including Craniospinal Irradiation Using Helical Tomotherapy. 61
31754587 2019
19
Papillary Tumor of the Pineal Region: Systematic Review and Analysis of Prognostic Factors. 61
30989225 2019
20
An Active Duty Sailor With Worsening Headaches and Blurry Vision. 61
30793180 2019
21
Risk of cancer in children exposed to antiretroviral nucleoside analogues in utero: The french experience. 61
29206312 2019
22
ATRX Mutations in Pineal Parenchymal Tumors of Intermediate Differentiation. 61
31225581 2019
23
A Case Report of Adult Pineoblastoma Occurring in a Pregnant Woman. 61
31092461 2019
24
Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma. 61
30877433 2019
25
Solitary fibrous tumor of the pineal region with delayed ectopic intracranial metastasis: A case report and review of the literature. 61
31124953 2019
26
Nivolumab in the Treatment of Recurrent or Refractory Pediatric Brain Tumors: A Single Institutional Experience. 61
30681550 2019
27
An update on the central nervous system manifestations of DICER1 syndrome. 61
30953130 2019
28
Primary pineal tumors - Unraveling histological challenges and certain clinical myths. 61
31085866 2019
29
Sexsomnia in an Adolescent. 61
30853039 2019
30
Severe anti-GAD antibody-associated encephalitis after stem cell transplantation. 61
30381136 2019
31
Pineal Parenchymal Tumors of Intermediate Differentiation: A long-Term Follow-Up Study in Helsinki Neurosurgery. 61
30391615 2019
32
Advances in Diagnostic Immunohistochemistry for Primary Tumors of the Central Nervous System. 61
30720470 2019
33
The impact on outcomes by using thiotepa in tandem transplant for pediatric high-risk embryonal brain tumors. 61
30839507 2019
34
Feasibility of high-dose chemotherapy protocols to treat infants with malignant central nervous system tumors: Experience from a middle-income country. 61
30251335 2019
35
Papillary Ependymoma of the Spinal Cord: A Case Report with Summary of Prior Published Cases. 61
30937039 2019
36
DICER1 Syndrome. 61
31409088 2019
37
Papillary tumor of the pineal region: Case report and review of the literature. 61
29691144 2019
38
Durable response to mTOR inhibition in a patient with relapsing papillary tumor of the pineal region. 61
30295836 2019
39
Recurrent Pineocytomalike Papillary Tumor of The Pineal Region: A Case Report and Literature Review. 61
30165231 2018
40
Microsurgical Resection of Posterior Third Ventricular/Pineal Region Papillary Tumor Via Supracerebellar Infratentorial Approach: 3-Dimensional Operative Video. 61
29788336 2018
41
Clinical Applications of Quantitative 3-Dimensional MRI Analysis for Pediatric Embryonal Brain Tumors. 61
30108003 2018
42
Rapid discrimination of pediatric brain tumors by mass spectrometry imaging. 61
30128689 2018
43
Extensive Molecular and Clinical Heterogeneity in Patients With Histologically Diagnosed CNS-PNET Treated as a Single Entity: A Report From the Children's Oncology Group Randomized ACNS0332 Trial. 61
30332335 2018
44
Prognosis of Pediatric Patients with Pineoblastoma: A SEER Analysis 1990-2013. 61
30031180 2018
45
Pineoblastoma in a child with 22q11.2 deletion syndrome. 61
30217803 2018
46
Papillary Tumor of the Pineal Region in Children: Presentation of a Case and Comprehensive Literature Review. 61
29906576 2018
47
Retrospective Analysis of the Clinical Characteristics, Therapeutic Aspects, and Prognostic Factors of 18 Cases of Childhood Pineoblastoma. 61
29709740 2018
48
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma. 61
30030436 2018
49
Primary Intracranial Manifestation of a Carcinosarcoma. 61
30283584 2018
50
Therapeutic strategy for pineal parenchymal tumor of intermediate differentiation (PPTID): case report of PPTID with malignant transformation to pineocytoma with leptomeningeal dissemination 6 years after surgery. 61
30028263 2018

Variations for Pineoblastoma

ClinVar genetic disease variations for Pineoblastoma:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DICER1 NM_177438.2(DICER1):c.4754C>G (p.Ser1585Ter)SNV Pathogenic 225883 rs875989779 14:95562503-95562503 14:95096166-95096166
2 DICER1 NM_177438.2(DICER1):c.4407_4410del (p.Ser1470fs)deletion Pathogenic 225888 rs875989784 14:95562847-95562850 14:95096510-95096513
3 DICER1 NM_177438.2(DICER1):c.1498A>T (p.Lys500Ter)SNV Pathogenic 225886 rs875989782 14:95583970-95583970 14:95117633-95117633
4 DICER1 NM_177438.2(DICER1):c.5103C>A (p.Tyr1701Ter)SNV Pathogenic/Likely pathogenic 225884 rs875989780 14:95560486-95560486 14:95094149-95094149
5 DICER1 NM_177438.2(DICER1):c.4050+1G>ASNV Pathogenic/Likely pathogenic 225887 rs875989783 14:95569682-95569682 14:95103345-95103345
6 DICER1 NM_177438.2(DICER1):c.4633dup (p.Ser1545fs)duplication Pathogenic/Likely pathogenic 225885 rs875989781 14:95562623-95562624 14:95096286-95096287

Expression for Pineoblastoma

Search GEO for disease gene expression data for Pineoblastoma.

Pathways for Pineoblastoma

Pathways related to Pineoblastoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
9.83 DROSHA DICER1

GO Terms for Pineoblastoma

Biological processes related to Pineoblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 miRNA metabolic process GO:0010586 9.16 DROSHA DICER1
2 pre-miRNA processing GO:0031054 8.96 DROSHA DICER1
3 production of siRNA involved in RNA interference GO:0030422 8.62 DROSHA DICER1

Molecular functions related to Pineoblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribonuclease III activity GO:0004525 8.62 DROSHA DICER1

Sources for Pineoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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