MCID: PNB001
MIFTS: 49

Pineoblastoma

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

Aliases & Classifications for Pineoblastoma

MalaCards integrated aliases for Pineoblastoma:

Name: Pineoblastoma 12 20 58 54 6 15 17 71
Tumor of the Pineal Region 71
Pineal Gland Neoplasm 71
Pineal Pnet 12
Pineocytoma 71
Pinealoma 44

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 44 D010871
NCIt 50 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

GARD : 20 Pineoblastoma is a type of cancerous (malignant) tumor that grows in a part of the brain known as the pineal gland. It occurs mainly in children. Symptoms of pineoblastoma include a buildup of fluid around the brain (hydrocephalus), headaches, nausea, and difficulty with eye movement. Without treatment, pineoblastomas can cause weakness and difficulty controlling movement. The long term outcome depends on the age at diagnosis, the size of the tumor, and if the tumor has spread outside the brain (metastasized). The cause of pineoblastoma is unknown, but specific inherited genetic variants in two genes, RB1 and DICER1 can increase the risk for a pineoblastoma. Diagnosis is based on the symptoms, clinical exam, and imaging studies. In addition, a biopsy is often done to examine a small piece of tumor tissue under the microscope. Treatment of pineoblastoma includes surgery to remove as much of the tumor as possible, as well as 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 Lenograstim and Sargramostim have been mentioned in the context of this disorder. Affiliated tissues include brain, pineal and eye, 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 215)
# Related Disease Score Top Affiliating Genes
1 obstructive hydrocephalus 30.5 SYP GFAP AFP
2 brain germinoma 30.2 POU5F1 AFP
3 supratentorial primitive neuroectodermal tumor 30.1 SYP GFAP DICER1
4 pineocytoma 30.0 SYP SAG GFAP ASMT
5 teratoma 29.9 SYP POU5F1 GFAP CEACAM5 AFP
6 medulloepithelioma 29.8 SYP GFAP DICER1
7 cellular ependymoma 29.8 SYP GFAP
8 benign ependymoma 29.7 SYP GFAP
9 cerebellar medulloblastoma 29.7 SYP SAG GFAP
10 pineal parenchymal tumor of intermediate differentiation 29.4 SYP KBTBD4 ASMT
11 pineal gland cancer 27.0 SYP SAG OR4C12 KBTBD4 GFAP FOXR2
12 adult pineoblastoma 11.2
13 retinoblastoma 11.0
14 hydrocephalus 10.4
15 botryoid rhabdomyosarcoma 10.4 DICER1 AFP
16 juvenile type testicular granulosa cell tumor 10.4 DICER1 AFP
17 testicular granulosa cell tumor 10.4 DICER1 AFP
18 liver lipoma 10.4 CEACAM5 AFP
19 gestational ovarian choriocarcinoma 10.4 CEACAM5 AFP
20 immature teratoma of ovary 10.3 CEACAM5 AFP
21 urachal adenocarcinoma 10.3 CEACAM5 AFP
22 liver inflammatory pseudotumor 10.3 CEACAM5 AFP
23 rectum signet ring adenocarcinoma 10.3 CEACAM5 AFP
24 adult teratoma 10.3 CEACAM5 AFP
25 dermoid cyst of ovary 10.3 CEACAM5 AFP
26 renal pelvis adenocarcinoma 10.3 CEACAM5 AFP
27 bile duct cystadenocarcinoma 10.3 CEACAM5 AFP
28 colonic lymphangioma 10.3 CEACAM5 AFP
29 paratesticular lipoma 10.3 CEACAM5 AFP
30 lipoma of spermatic cord 10.3 CEACAM5 AFP
31 liver leiomyoma 10.3 CEACAM5 AFP
32 germinoma 10.3
33 ovarian mixed germ cell neoplasm 10.3 CEACAM5 AFP
34 liver sarcoma 10.3 CEACAM5 AFP
35 sarcomatous intrahepatic cholangiocarcinoma 10.3 CEACAM5 AFP
36 thymus sarcomatoid carcinoma 10.3 SYP AFP
37 diabetes insipidus 10.3
38 pineal region teratoma 10.3 SYP AFP
39 rectum neuroendocrine neoplasm 10.3 SYP AFP
40 common bile duct disease 10.3 CEACAM5 AFP
41 abdominal tuberculosis 10.3 CEACAM5 AFP
42 mucinous adenofibroma 10.3 SYP CEACAM5
43 precocious puberty 10.3
44 bile duct cysts 10.3 CEACAM5 AFP
45 vulva basal cell carcinoma 10.3 SYP CEACAM5
46 vulvar eccrine porocarcinoma 10.3 SYP CEACAM5
47 pancreatic serous cystadenocarcinoma 10.3 SYP CEACAM5
48 ovarian germ cell teratoma 10.3 SYP AFP
49 vaginal tubulovillous adenoma 10.3 SYP CEACAM5
50 papillary thymic adenocarcinoma 10.3 SYP CEACAM5

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 20)
# 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 retinoblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0009919
8 reduced visual acuity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007663
9 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
10 paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003470
11 amaurosis fugax 58 31 occasional (7.5%) Occasional (29-5%) HP:0100576
12 papilledema 58 31 occasional (7.5%) Occasional (29-5%) HP:0001085
13 progressive visual field defects 58 31 occasional (7.5%) Occasional (29-5%) HP:0007987
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 seizure 31 occasional (7.5%) HP:0001250
17 lethargy 58 31 very rare (1%) Very rare (<4-1%) HP:0001254
18 seizures 58 Occasional (29-5%)
19 reduced consciousness/confusion 58 Very rare (<4-1%)
20 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 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 3 135968-09-1
2
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
3 Immunologic Factors Phase 3
4 Adjuvants, Immunologic Phase 3
5
tannic acid Approved Phase 2 1401-55-4
6
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
7
Titanium dioxide Approved Phase 2 13463-67-7
8
Ethanol Approved Phase 2 64-17-5 702
9
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
10
Sorbitol Approved Phase 2 50-70-4 5780
11
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
12
Irinotecan Approved, Investigational Phase 1, Phase 2 97682-44-5, 100286-90-6 60838
13
Bevacizumab Approved, Investigational Phase 2 216974-75-3
14
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
15
MK-1775 Investigational Phase 1, Phase 2 955365-80-7, 501-36-0 24856436 445154
16
Camptothecin Experimental Phase 1, Phase 2 7689-03-4
17 Anti-HIV Agents Phase 1, Phase 2
18 Anti-Retroviral Agents Phase 1, Phase 2
19 Plerixafor octahydrochloride Phase 1, Phase 2
20 Pharmaceutical Solutions Phase 2
21 Soy Bean Phase 2
22 Carboxymethylcellulose Sodium Phase 2
23 topoisomerase I inhibitors Phase 1, Phase 2
24 Alkylating Agents Phase 2
25 Immunoglobulins Phase 2
26 Mitogens Phase 2
27 Antibodies Phase 2
28 Antibodies, Monoclonal Phase 2
29 Angiogenesis Inhibitors Phase 2
30 Immunoglobulin G Phase 2
31 Antineoplastic Agents, Immunological Phase 2
32 Immunoglobulins, Intravenous Phase 2
33 Endothelial Growth Factors Phase 2
34
Lenalidomide Approved Phase 1 191732-72-6 216326
35
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
36
Trametinib Approved Phase 1 871700-17-3 11707110
37
Gemcitabine Approved Phase 1 95058-81-4 60750
38
Melphalan Approved Phase 1 148-82-3 4053 460612
39
Etoposide Approved Phase 1 33419-42-0 36462
40
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
41
Thiotepa Approved, Investigational Phase 1 52-24-4 5453
42
Carboplatin Approved Phase 1 41575-94-4 10339178 498142 38904
43
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
44
Busulfan Approved, Investigational Phase 1 55-98-1 2478
45
Topotecan Approved, Investigational Phase 1 119413-54-6, 123948-87-8 60700
46
Mechlorethamine Approved, Investigational Phase 1 51-75-2 4033
47
Vincristine Approved, Investigational Phase 1 2068-78-2, 57-22-7 5978
48
Cisplatin Approved Phase 1 15663-27-1 84093 441203 2767
49
Isotretinoin Approved Phase 1 4759-48-2 5538 5282379
50
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Terminated NCT01987596 Phase 3
2 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 Completed NCT00179803 Phase 2
3 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
4 Proton Radiation for Low Grade Gliomas Completed NCT01024907 Phase 1, Phase 2
5 A Randomized Phase II Trial of Bevacizumab to Control Brain Radiation Damage Completed NCT00492089 Phase 2 bevacizumab;placebo
6 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
7 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 Active, not recruiting NCT02095132 Phase 1, Phase 2 Adavosertib;Irinotecan Hydrochloride
8 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
9 A Phase 2 Study of Fluorescence Detection of Adult Primary Central Nervous System Tumors in Subjects Receiving Tozuleristide and Imaged With the Canvas System Not yet recruiting NCT04743310 Phase 2 tozuleristide
10 A Phase I Trial of CC-5013 (Lenalidomide) in Pediatric Patients With Recurrent or Refractory Primary CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
11 Phase I Trial of Temozolomide and O6-Benzylguanine in Pediatric Patients With Recurrent Brain Tumors Completed NCT00052780 Phase 1 O6-benzylguanine;temozolomide
12 Phase I Pilot Study of Stereotaxic Radiosurgery in Patients With Intracranial Neoplasms Completed NCT00019578 Phase 1
13 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
14 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
15 Phase I Study of Cilengitide (EMD 121974) in Children With Refractory Brain Tumors Completed NCT00063973 Phase 1 cilengitide
16 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
17 A Phase I Clinical Trial of AZD2171 in Children With Recurrent or Progressive Central Nervous System (CNS) Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
18 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
19 A First-in-human Phase I Single-agent Dose-escalation, Food Effect and Dose Expansion Study of Oral ONC206 in Recurrent and Rare Primary Central Nervous System Neoplasms Recruiting NCT04541082 Phase 1 ONC206
20 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
21 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
22 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
23 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
24 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
25 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
26 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
27 Microenvironment: Imaging/Implications in Brain Tumors; A Preliminary Investigation of the Biodistribution of [F-18]-EF5 in Patients With Brain Tumors Terminated NCT00110032 Phase 1 EF5
28 A PHASE 1/2 STUDY OF RO4929097, AN ORAL SMALL MOLECULE INHIBITOR OF GAMMA-SECRETASE, IN CHILDREN WITH RELAPSED/REFRACTORY SOLID OR CNS TUMORS, LYMPHOMA, OR T-CELL LEUKEMIA Terminated NCT01088763 Phase 1 gamma-secretase/Notch signalling pathway inhibitor RO4929097;dexamethasone
29 Phase I Study of CDK 4-6 Inhibitor PD-0332991 (Palbociclib; IBRANCE) in Children With Recurrent, Progressive or Refractory Central Nervous System Tumors Terminated NCT02255461 Phase 1 palbociclib isethionate
30 A Phase I Study of IMC-A12 (Anti-Insulin-like Growth Factor-I Receptor Monoclonal Antibody) in Combination With CCI-779 (Temsirolimus) in Pediatric Patients With Recurrent or Refractory Solid Tumors Withdrawn NCT01182883 Phase 1 IMC-A12;Temsirolimus
31 A Pilot Study of StrataXRT, a Topical Silicone Barrier, to Prevent Auricular Radiation Dermatitis in Pediatric Patients Undergoing Proton Cerebrospinal Radiation Therapy Withdrawn NCT03990597 Phase 1 Wound Dressing Material
32 Morphological Analysis of the Pineal Gland in Pediatric Retinoblastoma Patients Using Magnetic Resonance Imaging Completed NCT01884194
33 Melatonin Replacement Therapy Effects on Cardiac Autonomic Activity in Pinealectomized Patients Completed NCT03885258 Early Phase 1 Melatonin Replacement Therapy
34 International HIT-MED Registry (I-HIT-MED) for Children, Adolescents, and Adults With Medulloblastoma, Ependymoma, Pineoblastoma, CNS-primitive Neuroectodermal Tumours Recruiting NCT02417324
35 International Pleuropulmonary Blastoma Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
36 Proton Beam Radiotherapy for Medulloblastoma and Pineoblastoma: An Assessment of Acute Toxicity and Long Term Neurocognitive, Neuroendocrine and Ototoxicity Outcomes Active, not recruiting NCT01063114
37 Phase II Study of Craniospinal and Posterior Fossa Irradiation Using Proton Beam Radiotherapy for Medulloblastoma and Pineoblastoma: Assessment of Acute and Long Term Sequelae Active, not recruiting NCT00105560
38 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Active, not recruiting NCT00565903
39 A Pilot Study of Inpatient Hospice With Procurement of Brain Tumor Tissue on Expiration for Research Purposes Terminated NCT01251913
40 Yoga and Brain Cancer: A Feasibility Study Terminated NCT01234805
41 Dynamic Contrast Enhanced Steady State T1-Weighted Perfusion MRI (DCE MRI): Characterization of Intracranial Lesions Terminated NCT02967380 Gadobenate Dimeglumine;Gadobutrol
42 Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors Withdrawn NCT02194452

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, Eye, Thyroid, Spinal Cord, Endothelial, Kidney

Publications for Pineoblastoma

Articles related to Pineoblastoma:

(show top 50) (show all 473)
# 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. 61 54
16825954 2006
3
Histological analysis of lesions of the pineal region: a retrospective study of 12 years. 61 54
16413691 2006
4
OCT4 immunohistochemistry is superior to placental alkaline phosphatase (PLAP) in the diagnosis of central nervous system germinoma. 61 54
15725806 2005
5
Demonstration of hydroxyindole-O-methyltransferase (HIOMT) mRNA expression in pineal parenchymal tumors: histochemical in situ hybridization. 61 54
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. 61 54
8360704 1993
8
Papillary tumor of the pineal region in pediatric populations: An additional case and systematic review of a rare tumor entity. 61
33360024 2021
9
Long-term risk of subsequent cancer incidence among hereditary and nonhereditary retinoblastoma survivors. 61
33473166 2021
10
Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant. 61
32692439 2021
11
Phase 1 trial of olaratumab monotherapy and in combination with chemotherapy in pediatric patients with relapsed/refractory solid and central nervous system tumors. 61
33474828 2021
12
Histopathological and Immunohistochemical Studies of Pineoblastoma in a Cow. 61
33494905 2021
13
Four Cases of Desquamative Esophagitis Occurring after Hematopoietic Stem Cell Transplantation. 61
32759586 2020
14
Management of methotrexate-induced neurotoxicity with aminophylline plus dextromethorphan in a pediatric patient with pineoblastoma. 61
32710710 2020
15
H3K27M-mutant diffuse midline glioma presenting as synchronous lesions involving pineal and suprasellar region: A case report and literature review. 61
33222904 2020
16
Methylation data of mouse Rb-deficient pineoblastoma. 61
32923545 2020
17
WNT-activated embryonal tumors of the pineal region: ectopic medulloblastomas or a novel pineoblastoma subgroup? 61
32772175 2020
18
Papillary tumor of the pineal region: a single-center experience. 61
33133629 2020
19
Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8. 61
32124011 2020
20
Pineoblastoma in children less than six years of age: The Head Start I, II, and III experience. 61
32187454 2020
21
Embryonal Tumors of the Central Nervous System: An Update. 61
32389264 2020
22
Advances in Diagnostic Immunohistochemistry for Primary Tumors of the Central Nervous System. 61
30720470 2020
23
Patterns of Care and Age-Specific Impact of Extent of Resection and Adjuvant Radiotherapy in Pediatric Pineoblastoma. 61
32110805 2020
24
Intracranial hemangiopericytoma after radiation treatment: first case in the literature. 61
32375520 2020
25
Modeling germline mutations in pineoblastoma uncovers lysosome disruption-based therapy. 61
32286280 2020
26
An update on the central nervous system manifestations of DICER1 syndrome. 61
30953130 2020
27
Pediatric embryonal brain tumors in the molecular era. 61
31917601 2020
28
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
29
Radiotherapy for papillary tumor of the pineal region: A systematic review of the literature. 61
31896492 2020
30
Molecular characterization of histopathological ependymoma variants. 61
31679042 2020
31
Increased VEGF levels in a case of papillary tumor of the pineal region with intracranial hemorrhage: a potential surrogate indicator of tumor angiogenesis and aggressiveness? 61
26745494 2020
32
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
33
Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials. 61
31802236 2020
34
Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study. 61
31820118 2020
35
Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations. 61
31768671 2020
36
Adverse Factors of Treatment Response and Overall Survival in Pediatric and Adult Patients with Pineoblastoma. 61
32884348 2020
37
Development and Validation of a Prognostic Nomogram to Predict Cancer-Specific Survival in Adult Patients With Pineoblastoma. 61
32793463 2020
38
Corrigendum: Development and Validation of a Prognostic Nomogram to Predict Cancer-Specific Survival in Adult Patients With Pineoblastoma. 61
33123489 2020
39
Papillary Tumor of the Pineal Region with Parinaud Syndrome: A Case Report. 61
33081665 2020
40
[Role of CT in diagnosis and monitoring of retinoblastoma in Senegal]. 61
31561918 2019
41
Tandem high-dose chemotherapy with topotecan-thiotepa-carboplatin and melphalan-etoposide-carboplatin regimens for pediatric high-risk brain tumors. 61
31352632 2019
42
Pineoblastoma in Adults: A Rare Case Successfully Treated with Multimodal Approach Including Craniospinal Irradiation Using Helical Tomotherapy. 61
31754587 2019
43
Papillary Tumor of the Pineal Region: Systematic Review and Analysis of Prognostic Factors. 61
30989225 2019
44
An Active Duty Sailor With Worsening Headaches and Blurry Vision. 61
30793180 2019
45
Risk of cancer in children exposed to antiretroviral nucleoside analogues in utero: The french experience. 61
29206312 2019
46
ATRX Mutations in Pineal Parenchymal Tumors of Intermediate Differentiation. 61
31225581 2019
47
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
48
A Case Report of Adult Pineoblastoma Occurring in a Pregnant Woman. 61
31092461 2019
49
Solitary fibrous tumor of the pineal region with delayed ectopic intracranial metastasis: A case report and review of the literature. 61
31124953 2019
50
Nivolumab in the Treatment of Recurrent or Refractory Pediatric Brain Tumors: A Single Institutional Experience. 61
30681550 2019

Variations for Pineoblastoma

ClinVar genetic disease variations for Pineoblastoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DICER1 NM_030621.4(DICER1):c.5103C>A (p.Tyr1701Ter) SNV Pathogenic 225884 rs875989780 14:95560486-95560486 14:95094149-95094149
2 DICER1 NM_030621.4(DICER1):c.4050+1G>A SNV Pathogenic 225887 rs875989783 14:95569682-95569682 14:95103345-95103345
3 DICER1 NM_177438.2(DICER1):c.4633dup (p.Ser1545fs) Duplication Pathogenic 225885 rs875989781 14:95562623-95562624 14:95096286-95096287
4 DICER1 NM_177438.2(DICER1):c.1498A>T (p.Lys500Ter) SNV Pathogenic 225886 rs875989782 14:95583970-95583970 14:95117633-95117633
5 DICER1 NM_177438.2(DICER1):c.4407_4410del (p.Ser1470fs) Deletion Pathogenic 225888 rs875989784 14:95562847-95562850 14:95096510-95096513
6 DICER1 NM_177438.2(DICER1):c.4754C>G (p.Ser1585Ter) SNV Pathogenic 225883 rs875989779 14:95562503-95562503 14:95096166-95096166

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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