MCID: AST002
MIFTS: 38

Astroblastoma

Categories: Cancer diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Astroblastoma

MalaCards integrated aliases for Astroblastoma:

Name: Astroblastoma 11 19 58 53 14 71 75
Cerebral Astroblastoma 19

Characteristics:


Prevelance:

<1/1000000 (Europe) 58

Age Of Onset:

Adolescent,Adult,Childhood,Infancy 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:7305
MeSH 43 D018302
NCIt 49 C4324
SNOMED-CT 68 48952003
ICD10 via Orphanet 32 C71.9
UMLS via Orphanet 72 C0334587
Orphanet 58 ORPHA251679
UMLS 71 C0334587

Summaries for Astroblastoma

GARD: 19 Astroblastoma is a rare glial tumor usually located in the cerebral hemisphere of the brain. It can occur in individuals of any age, but occurs predominantly in children and young adults. Signs and symptoms depend on the location and size of the tumor but most commonly include headaches and seizures. Because these tumors are rare, there is little known regarding their behavior and how they should be managed. Adjuvant therapy, including radiation and/or chemotherapy, is recommended for high-grade and recurrent cases (although its effectiveness is controversial).

MalaCards based summary: Astroblastoma, also known as cerebral astroblastoma, is related to astroblastoma, mn1-altered and cellular ependymoma. An important gene associated with Astroblastoma is GFAP (Glial Fibrillary Acidic Protein), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Neural Stem Cells and Lineage-specific Markers. Affiliated tissues include brain, parietal lobe and temporal lobe, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

Orphanet: 58 A very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.

Disease Ontology: 11 A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly.

Wikipedia: 75 Astroblastoma is a rare glial tumor derived from the astroblast, a type of cell that closely resembles... more...

Related Diseases for Astroblastoma

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

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 astroblastoma, mn1-altered 31.1 ZFTA PATZ1 MN1 MAMLD1 EWSR1 CXXC5
2 cellular ependymoma 30.3 ZFTA VIM RELA GFAP
3 oligodendroglioma 30.1 VIM OLIG2 IDH1 GFAP
4 gemistocytic astrocytoma 29.8 IDH1 GFAP ATRX
5 idh-wildtype glioblastoma 29.8 OLIG2 IDH1 ATRX
6 anaplastic astrocytoma 29.6 OLIG2 KIAA1549 IDH1 GFAP ATRX
7 pleomorphic xanthoastrocytoma 29.5 ZFTA MYBL1 MN1 KIAA1549 IDH1 ATRX
8 gliosarcoma 29.4 VIM OLIG2 IDH1 GFAP ATRX
9 anaplastic pleomorphic xanthoastrocytoma 29.4 OLIG2 MN1 KIAA1549 IDH1 BEND2 ATRX
10 neurofibromatosis, type i 29.4 KIAA1549 IDH1 EWSR1
11 pilocytic astrocytoma 29.4 OLIG2 MYBL1 KIAA1549 IDH1 GFAP ATRX
12 gliomatosis cerebri 29.4 OLIG2 KIAA1549 IDH1 GFAP ATRX
13 diffuse astrocytoma 29.3 OLIG2 MYBL1 KIAA1549 IDH1 GFAP ATRX
14 meningioma, familial 29.1 VIM OLIG2 MN1 KIAA1549 IDH1 GFAP
15 glial tumor 10.5
16 rare tumor 10.5
17 glioma susceptibility 1 10.4
18 brain cancer 10.4
19 third ventricle chordoid glioma 10.3 OLIG2 GFAP
20 childhood infratentorial ependymoma 10.3 ZFTA MN1
21 histoplasmosis meningitis 10.3 IDH1 GFAP
22 rhabdoid meningioma 10.3 VIM GFAP
23 chondroid lipoma 10.3 ZFTA MN1
24 gliofibroma 10.2 KIAA1549 GFAP
25 central nervous system cancer 10.2
26 cerebrovascular benign neoplasm 10.2 IDH1 GFAP
27 simple partial epilepsy 10.2 KIAA1549 IDH1
28 optic nerve neoplasm 10.2 OLIG2 KIAA1549
29 pilocytic astrocytoma of cerebellum 10.2 KIAA1549 IDH1
30 glioblastoma 10.2
31 juvenile pilocytic astrocytoma 10.2 KIAA1549 IDH1
32 syringoma 10.2 VIM GFAP
33 papillary craniopharyngioma 10.2 KIAA1549 IDH1
34 obstructive hydrocephalus 10.1 OLIG2 KIAA1549 GFAP
35 thalamic neoplasm 10.1 MYBL1 KIAA1549
36 embryonal tumor with multilayered rosettes, c19mc-altered 10.1 MN1 GFAP FOXR2
37 gangliocytoma 10.1 KIAA1549 IDH1 GFAP
38 fibrillary astrocytoma 10.1 KIAA1549 IDH1 GFAP
39 brain stem astrocytic neoplasm 10.1 IDH1 ATRX
40 cerebellar astrocytoma 10.1 KIAA1549 IDH1 BEND2
41 medulloepithelioma 10.1 OLIG2 GFAP FOXR2
42 idh-mutant anaplastic astrocytoma 10.1 IDH1 ATRX
43 pineoblastoma 10.1 OLIG2 GFAP FOXR2
44 idh-wildtype anaplastic astrocytoma 10.1 IDH1 ATRX
45 optic nerve glioma 10.1 OLIG2 KIAA1549 IDH1
46 childhood astrocytic tumor 10.1 KIAA1549 IDH1
47 astrocytoma, idh-mutant, grade 4 10.1 IDH1 ATRX
48 supratentorial primitive neuroectodermal tumor 10.1 IDH1 GFAP FOXR2
49 mixed oligodendroglioma-astrocytoma 10.1 IDH1 ATRX
50 cone-rod dystrophy 2 10.1

Graphical network of the top 20 diseases related to Astroblastoma:



Diseases related to Astroblastoma

Symptoms & Phenotypes for Astroblastoma

GenomeRNAi Phenotypes related to Astroblastoma according to GeneCards Suite gene sharing:

25 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.68 BCORL1 EWSR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.68 BCORL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.68 BCORL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.68 MYBL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.68 BCORL1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.68 EWSR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.68 BCORL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.68 ATRX
9 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.68 EWSR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.68 EWSR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.68 EWSR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.68 BCORL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.68 BCORL1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.68 BCORL1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.68 EWSR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.68 BCORL1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.68 BCORL1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 ATRX
19 Increased shRNA abundance (Z-score > 2) GR00366-A-71 9.68 ATRX
20 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.68 EWSR1 MYBL1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.68 EWSR1

MGI Mouse Phenotypes related to Astroblastoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.36 ATRX BCORL1 BEND2 CXXC5 EWSR1 GFAP

Drugs & Therapeutics for Astroblastoma

Search Clinical Trials, NIH Clinical Center for Astroblastoma

Genetic Tests for Astroblastoma

Anatomical Context for Astroblastoma

Organs/tissues related to Astroblastoma:

MalaCards : Brain, Parietal Lobe, Temporal Lobe, Hypothalamus, Cerebellum, Eye, Spinal Cord

Publications for Astroblastoma

Articles related to Astroblastoma:

(show top 50) (show all 189)
# Title Authors PMID Year
1
Semiquantitative postembedding characterization of intermediate filaments in central nervous system lesions using immunoelectron microscopy. 53 62
9044656 1995
2
Recurrent high-grade astroblastoma with MN1-BEND2 fusion in spinal cord and literature review. 62
36366964 2022
3
Intraoperative high-field resonance: How to optimize its use in our healthcare system. 62
34625382 2022
4
Upfront molecular targeted therapy for the treatment of BRAF-mutant pediatric high-grade glioma. 62
35397478 2022
5
Upregulation of miRNA-26a enhances the apoptosis of cerebral neurons by targeting EphA2 and inhibiting the MAPK pathway. 62
36049464 2022
6
Spinal astroblastoma: a rare tumour in an unusual location. 62
35152342 2022
7
Paediatric astroblastoma-like neuroepithelial tumour of the spinal cord with a MAMLD1-BEND2 rearrangement. 62
35301744 2022
8
Soft-tissue sarcoma with MN1-BEND2 fusion: A case report and comparison with astroblastoma. 62
35094441 2022
9
Circumscribed astrocytic gliomas: Contribution of molecular analyses to histopathology diagnosis in the WHO CNS5 classification. 62
35562132 2022
10
Prevalence of BRAFV600 in glioma and use of BRAF Inhibitors in patients with BRAFV600 mutation-positive glioma: systematic review. 62
34718782 2022
11
Cerebral astroblastoma radiologically mimicking pilocytic astrocytoma: A case report. 62
35498346 2022
12
[Astroblastoma with Rapid Cyst Expansion and Hemorrhage in an Adult: A Case Report]. 62
35437291 2022
13
Neuroimaging of astroblastomas: A case series and systematic review. 62
34816541 2022
14
High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 13. 62
35103816 2022
15
A novel LARGE1-AFF2 fusion expanding the molecular alterations associated with the methylation class of neuroepithelial tumors with PATZ1 fusions. 62
35115049 2022
16
Clinicoradiological and histopathological characteristics and treatment outcomes of cerebral astroblastoma in children: a single-institution experience. 62
35180693 2022
17
Thirteen-year long-term follow-up in a rare case of anaplastic astroblastoma: What makes the difference? 62
35673675 2022
18
The Diagnostic Value of Pan-Trk Expression to Detect Neurotrophic Tyrosine Receptor Kinase (NTRK) Gene Fusion in CNS Tumours: A Study Using Next-Generation Sequencing Platform. 62
35295612 2022
19
Recurrent HGNET-MN1 altered (astroblastoma MN1-altered) of the foramen magnum: Case report and molecular classification. 62
35509530 2022
20
EWSR1-BEND2 fusion defines an epigenetically distinct subtype of astroblastoma. 62
34825267 2022
21
A pediatric cerebral tumor with MN1 alteration and pathological features mimicking carcinoma metastasis: may the terminology "high grade neuroepithelial tumor with MN1 alteration" still be relevant? 62
34269865 2021
22
Molecular profiling of pediatric and adolescent ependymomas: identification of genetic variants using a next-generation sequencing panel. 62
34570300 2021
23
Spinal cord astroblastoma with EWSR1-BEND2 fusion classified as HGNET-MN1 by methylation classification: a case report. 62
34313881 2021
24
A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management. 62
33534137 2021
25
Cerebral astroblastoma with oligodendroglial-like cells: A case report. 62
34713831 2021
26
Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions. 62
34389065 2021
27
High-Grade Intraventricular Astroblastoma in a Young Adult: A Rare and Controversial Tumor to Manage. 62
34660370 2021
28
Cerebral Astroblastoma: A Rare Tumor. 62
34395111 2021
29
Unique pathological findings of astroblastoma with MN1 alteration in a patient with late recurrence. 62
33913040 2021
30
Supratentorial ependymoma in childhood: more than just RELA or YAP. 62
33481105 2021
31
A Rare Case of a High-Grade Astroblastoma with 5-Year Follow-up. 62
34211891 2021
32
Central nervous system neuroepithelial tumors with MN1-alteration: an individual patient data meta-analysis of 73 cases. 62
32601775 2020
33
Well-differentiated Astroblastoma with Both Focal Anaplastic Features and a Meningioma 1 Gene Alteration. 62
33062570 2020
34
Malignant Astroblastoma 62
32212579 2020
35
Cerebral hemispheric glioblastoma with PNET-like morphology and histone H3.3 G34 mutation in younger patients: Report of three rare cases and diagnostic pitfalls. 62
32317528 2020
36
Temporal lobe angiocentric glioma with oligodendroglioma-like areas: a rare association of an uncommon tumor. A case report with review of literature. 62
31897632 2020
37
Spinal cord astroblastoma with an EWSR1-BEND2 fusion classified as a high-grade neuroepithelial tumour with MN1 alteration. 62
31863478 2020
38
[Recurrent High-grade Astroblastoma Treated with Stereotactic Radiotherapy:A Case Report]. 62
32094314 2020
39
Early versus delayed postoperative radiotherapy for treatment of low-grade gliomas. 62
31958162 2020
40
Molecular Profiling Reclassifies Adult Astroblastoma into Known and Clinically Distinct Tumor Entities with Frequent Mitogen-Activated Protein Kinase Pathway Alterations. 62
31346129 2019
41
Extra-axial anaplastic astroblastoma in a 67-year-old woman. 62
31206872 2019
42
Posterior fossa astroblastoma in a child: a case report and a review of the literature. 62
30859299 2019
43
MN1 rearrangement in astroblastoma: study of eight cases and review of literature. 62
31111274 2019
44
A case report of high-grade astroblastoma in a young adult. 62
30813777 2019
45
Genomic analysis demonstrates that histologically-defined astroblastomas are molecularly heterogeneous and that tumors with MN1 rearrangement exhibit the most favorable prognosis. 62
30876455 2019
46
RBM10 truncation in astroblastoma in a patient with history of mandibular ameloblastoma: A case report. 62
30803556 2019
47
BRAF V600E-mutated central nervous system tumor with divergent morphological feature - Anaplastic pleomorphic xanthoastrocytoma-like and astroblastoma-like. 62
30557911 2019
48
Role of DNA Methylation Profile in Diagnosing Astroblastoma: A Case Report and Literature Review. 62
31114608 2019
49
Brainstem astroblastoma with MN1 translocation. 62
30238518 2018
50
[Astroblastoma: A rare glial tumor]. 62
30487065 2018

Variations for Astroblastoma

Cosmic variations for Astroblastoma:

8 (show all 27)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM102656129 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 4
2 COSM89046819 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 4
3 COSM105514140 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 4
4 COSM94463526 NF2 central nervous system,brain,other,neoplasm c.452A>G p.Y151C 22:29655652-29655652 4
5 COSM102848205 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 4
6 COSM93474794 NF2 central nervous system,brain,other,neoplasm c.575A>G p.Y192C 22:29655652-29655652 4
7 COSM89067962 NF2 central nervous system,brain,other,neoplasm c.326A>G p.Y109C 22:29655652-29655652 4
8 COSM105111282 NF2 central nervous system,brain,other,neoplasm c.447+13367A>G p.? 22:29655652-29655652 4
9 COSM95502154 NF2 central nervous system,brain,other,neoplasm c.449A>G p.Y150C 22:29655652-29655652 4
10 COSM92446479 NF2 central nervous system,brain,other,neoplasm c.326A>G p.Y109C 22:29655652-29655652 4
11 COSM90465359 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 4
12 COSM112752230 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 4
13 COSM103033757 IDH1 central nervous system,brain,other,neoplasm c.395G>A p.R132H 2:208248388-208248388 4
14 COSM103033796 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 4
15 COSM103034325 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 4
16 COSM112752272 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 4
17 COSM90465396 IDH1 central nervous system,brain,other,neoplasm c.394C>T p.R132C 2:208248389-208248389 4
18 COSM90466087 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 4
19 COSM90465733 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 4
20 COSM112752610 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 4
21 COSM112752921 IDH1 central nervous system,brain,other,neoplasm c.394C>A p.R132S 2:208248389-208248389 4
22 COSM112752563 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 4
23 COSM90465675 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 4
24 COSM103034038 IDH1 central nervous system,brain,other,neoplasm c.394C>G p.R132G 2:208248389-208248389 4
25 COSM103034000 IDH1 central nervous system,brain,other,neoplasm c.395G>T p.R132L 2:208248388-208248388 4
26 COSM93220513 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 4
27 COSM102860866 FOXO3 central nervous system,brain,other,neoplasm c.583A>T p.K195* 6:108561791-108561791 4

Expression for Astroblastoma

Search GEO for disease gene expression data for Astroblastoma.

Pathways for Astroblastoma

Pathways related to Astroblastoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.66 RELA EWSR1 CXXC5 ATRX
2 11.23 VIM OLIG2 GFAP
3 10.59 MYBL1 BCORL1 ATRX

GO Terms for Astroblastoma

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

# Name GO ID Score Top Affiliating Genes
1 regulation of DNA-templated transcription GO:0006355 9.8 RELA PATZ1 OLIG2 MYBL1 MN1 FOXR2
2 Bergmann glial cell differentiation GO:0060020 9.46 VIM GFAP
3 intermediate filament-based process GO:0045103 8.62 VIM GFAP

Sources for Astroblastoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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