MCID: ANP006
MIFTS: 46

Anaplastic Ependymoma

Categories: Bone diseases, Cancer diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Anaplastic Ependymoma

MalaCards integrated aliases for Anaplastic Ependymoma:

Name: Anaplastic Ependymoma 12 20 58 54 6 70
Undifferentiated Ependymoma 12
Ependymoma, Anaplastic 12

Characteristics:

Orphanet epidemiological data:

58
anaplastic ependymoma
Inheritance: Not applicable; Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:5889
ICD10 via Orphanet 33 C71.9
UMLS via Orphanet 71 C0280788
Orphanet 58 ORPHA251646
UMLS 70 C0280788

Summaries for Anaplastic Ependymoma

GARD : 20 Anaplastic ependymoma is a type of ependymoma, which is a tumor that forms when cells in the central nervous system (including the brain and spinal cord) begin to multiply rapidly. An ependymoma is anaplastic if the cells grow very quickly and are significantly unusual in shape. Ependymomas can occur at any age. When ependymomas occur in children, they are more frequently located in the brain (intracranial). Ependymomas are more often found in the spinal cord of affected adults. Symptoms of an anaplastic ependymoma depend on the age of the person and the size and location of the tumor but may include headaches, nausea, vision changes, seizures, and changes in mood or personality. The exact cause of an anaplastic ependymoma is not known, but it is thought that certain changes (acquired pathogenic variants, also known as somatic mutations ) in specific genes in some cells of the body allow the cells to begin growing quickly. A diagnosis of anaplastic ependymoma is generally suspected based on imaging with MRI or CT scan. The diagnosis can be confirmed with a biopsy of the tumor or when the tumor is removed ( resected ). Treatment for anaplastic ependymoma begins with surgery to remove as much of the tumor as possible. Radiation therapy is also recommended for people with anaplastic ependymoma.

MalaCards based summary : Anaplastic Ependymoma, also known as undifferentiated ependymoma, is related to subependymoma and high grade ependymoma, and has symptoms including seizures, vomiting and headache. An important gene associated with Anaplastic Ependymoma is MUC1 (Mucin 1, Cell Surface Associated), and among its related pathways/superpathways are Endometrial cancer and Neuroscience. The drugs Cisplatin and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are behavior/neurological and cardiovascular system

Related Diseases for Anaplastic Ependymoma

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

(show top 50) (show all 274)
# Related Disease Score Top Affiliating Genes
1 subependymoma 31.9 SYP GFAP
2 high grade ependymoma 31.5 RELA NF2 GFAP
3 cellular ependymoma 30.6 VIM SYP S100B RELA NF2 MUC1
4 benign ependymoma 30.5 SYP PTEN NF2 GFAP
5 secretory meningioma 30.1 VIM NF2 MUC1
6 ependymoblastoma 30.0 VIM SYP GFAP
7 obstructive hydrocephalus 29.8 SYP NF2 GFAP
8 ganglioglioma 29.8 SYP S100B GFAP
9 hydrocephalus 29.6 SYP S100B PTEN GFAP
10 papilloma of choroid plexus 29.6 SYP S100B MUC1 GFAP
11 medulloepithelioma 29.5 VIM SYP MUC1 GFAP
12 angiocentric glioma 29.5 VIM SYP S100B GFAP
13 li-fraumeni syndrome 29.5 PTEN PALB2 MDM2
14 anaplastic astrocytoma 29.2 PTEN MDM2 GFAP
15 neurilemmoma 29.0 VIM S100B NF2 MUC1 GFAP
16 clear cell ependymoma 29.0 VIM SYP NF2 MUC1 GFAP
17 gliosarcoma 28.9 VIM S100B PTEN MDM2 GFAP
18 malignant astrocytoma 28.9 VIM S100B RELA PTEN MDM2 GFAP
19 myxopapillary ependymoma 28.4 VIM SYP S100B RELA NF2 MUC1
20 meningioma, familial 28.4 VIM SYP S100B PTEN NF2 MUC1
21 medulloblastoma 28.2 VIM SYP S100B PTEN PALB2 MDM2
22 malignant adult ependymoma 11.2
23 moyamoya disease 2 10.3 RNF213-AS1 RNF213
24 sclerosing perineurioma 10.3 S100B MUC1
25 localized hypertrophic neuropathy 10.3 S100B MUC1
26 reticular perineurioma 10.3 S100B MUC1
27 aggressive digital papillary adenocarcinoma 10.3 S100B MUC1
28 meningeal melanocytoma 10.3 S100B MUC1
29 cerebral primitive neuroectodermal tumor 10.3 S100B MUC1
30 non-functioning pituitary adenoma 10.3 S100B MUC1
31 glioma susceptibility 1 10.3
32 myopericytoma 10.3 S100B RELA
33 esophageal neuroendocrine tumor 10.2 SYP MUC1
34 sinonasal undifferentiated carcinoma 10.2 SYP MUC1
35 vulvar eccrine porocarcinoma 10.2 SYP MUC1
36 bile duct mucinous adenocarcinoma 10.2 SYP MUC1
37 middle ear adenoma 10.2 SYP MUC1
38 epithelioid malignant peripheral nerve sheath tumor 10.2 S100B MUC1
39 hypoganglionosis 10.2 SYP S100B
40 biliary tract benign neoplasm 10.2 SYP MUC1
41 nodular hidradenoma 10.2 VIM MUC1
42 rosette-forming glioneuronal tumor 10.2 SYP S100B
43 hidradenoma 10.2 VIM MUC1
44 bednar tumor 10.2 VIM S100B
45 intracranial hypertension 10.2
46 glial tumor 10.2
47 endometrial mucinous adenocarcinoma 10.2 VIM MUC1
48 chondroid chordoma 10.2 VIM MUC1
49 moyamoya angiopathy 10.2 RNF213-AS1 RNF213
50 pericardial mesothelioma 10.2 VIM MUC1

Graphical network of the top 20 diseases related to Anaplastic Ependymoma:



Diseases related to Anaplastic Ependymoma

Symptoms & Phenotypes for Anaplastic Ependymoma

UMLS symptoms related to Anaplastic Ependymoma:


seizures; vomiting; headache; nausea

MGI Mouse Phenotypes related to Anaplastic Ependymoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 GFAP MDM2 NF2 PALB2 PTEN RNF213
2 cardiovascular system MP:0005385 9.92 GFAP MDM2 PALB2 PTEN RELA RNF213
3 embryo MP:0005380 9.8 MDM2 NF2 PALB2 PTEN RELA RUNX1
4 integument MP:0010771 9.7 MDM2 NF2 PALB2 PTEN RELA RUNX1
5 nervous system MP:0003631 9.61 GFAP MDM2 NF2 PALB2 PTEN RELA
6 normal MP:0002873 9.28 GFAP MDM2 PTEN RELA RNF213 RUNX1

Drugs & Therapeutics for Anaplastic Ependymoma

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
2
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
3
Etoposide Approved Phase 3 33419-42-0 36462
4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
5
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
6 Tubulin Modulators Phase 3
7 Antirheumatic Agents Phase 3
8 Etoposide phosphate Phase 3
9 Immunosuppressive Agents Phase 3
10 Antimitotic Agents Phase 3
11 Alkylating Agents Phase 3
12 Dermatologic Agents Phase 3
13 Immunologic Factors Phase 3
14 Podophyllotoxin Phase 3 518-28-5
15 Keratolytic Agents Phase 3
16 Proteasome Inhibitors Phase 2
17
Mechlorethamine Approved, Investigational Phase 1 51-75-2 4033
18
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
19
Melphalan Approved Phase 1 148-82-3 4053 460612
20
Mycophenolic acid Approved Phase 1 24280-93-1 446541
21
Tacrolimus Approved, Investigational Phase 1 104987-11-3 445643 439492 6473866
22
Thiotepa Approved, Investigational Phase 1 52-24-4 5453
23
Phenylalanine Approved, Investigational, Nutraceutical Phase 1 63-91-2 6140
24 Immunoglobulins Phase 1
25 Anti-Bacterial Agents Phase 1
26 Antibiotics, Antitubercular Phase 1
27 Antitubercular Agents Phase 1
28 Rho(D) Immune Globulin Phase 1
29 Immunoglobulins, Intravenous Phase 1
30 Calcineurin Inhibitors Phase 1
31 Cyclosporins Phase 1
32 Antilymphocyte Serum Phase 1
33 Anti-Infective Agents Phase 1
34 Antibodies Phase 1
35 gamma-Globulins Phase 1
36 Antimetabolites Phase 1
37 Nitrogen Mustard Compounds Phase 1
38 Thymoglobulin Phase 1
39
L-Alanine Nutraceutical Phase 1 56-41-7 5950
40
Dopamine Approved 51-61-6, 62-31-7 681
41 Dopamine Agents
42 Fluorides
43 Dihydroxyphenylalanine
44 Neurotransmitter Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase III Randomized Trial of Post-Radiation Chemotherapy in Patients With Newly Diagnosed Ependymoma Ages 1 to 21 Years Active, not recruiting NCT01096368 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Vincristine
2 Phase II Clinical Trial of Marizomib for Recurrent Low-Grade and Anaplastic Supratentorial, Infratentorial and Spinal Cord Ependymoma Recruiting NCT03727841 Phase 2 Marizomib
3 Pilot Trial of LET Optimized IMPT for Pediatric Patients With Ependymoma Recruiting NCT03750513 Phase 1
4 A Pilot Study of Allogeneic Hematopoietic Cell Transplantation for Patients With High Grade Central Nervous System Malignancies Recruiting NCT04521946 Phase 1 Etoposide;Fludarabine Phosphate;Melphalan;Mycophenolate Mofetil;Tacrolimus;Thiotepa
5 18F-FDOPA PET/CT or PET/MRI in Patients With Gliomas Terminated NCT02175745 18F-fluoro-dihydroxyphenylalanine

Search NIH Clinical Center for Anaplastic Ependymoma

Genetic Tests for Anaplastic Ependymoma

Anatomical Context for Anaplastic Ependymoma

MalaCards organs/tissues related to Anaplastic Ependymoma:

40
Brain, Spinal Cord, Eye, Pineal, Pituitary, Lung, Lymph Node

Publications for Anaplastic Ependymoma

Articles related to Anaplastic Ependymoma:

(show top 50) (show all 334)
# Title Authors PMID Year
1
Multimodal treatment including tandem high-dose chemotherapy and autologous stem cell transplantation in children with anaplastic ependymomas. 20
29453811 2018
2
Brainstem Injury in Pediatric Patients With Posterior Fossa Tumors Treated With Proton Beam Therapy and Associated Dosimetric Factors. 20
29413284 2018
3
[Expression of epidermal growth factor receptor and PTEN in malignancy brain tumors]. 54 61
17236582 2006
4
Molecular genetic analysis of phosphatase and tensin homolog and p16 tumor suppressor genes in patients with malignant glioma. 54 61
15679305 2003
5
The expression of p73, p21 and MDM2 proteins in gliomas. 61 54
12241107 2002
6
RELA Fusion-Positive Ependymoma in a Child with Down Syndrome: A Case Report. 61
33690230 2021
7
A phase II study of dose-dense temozolomide and lapatinib for recurrent low-grade and anaplastic supratentorial, infratentorial, and spinal cord ependymoma. 61
33085768 2021
8
Recurring pediatric anaplastic ependymoma with rare peritoneal carcinomatosis: a case report and hypothesis of mechanism. 61
32681369 2021
9
High-grade neuroepithelial tumor with BCL6 corepressor-alteration presenting pathological and radiological calcification: A case report. 61
33713516 2021
10
Intracranial ependymomas: The role of advanced neuroimaging in diagnosis and management. 61
33525963 2021
11
Long-term outcomes of spinal ependymomas: an institutional experience of more than 60 cases. 61
33179213 2021
12
Intracytoplasmic dot-like inclusions as cytopathologically useful findings of ependymoma: Case report of adolescent supratentorial anaplastic ependymoma with clear cell morphology. 61
33505691 2021
13
Grade III intradural extramedullary anaplastic ependymoma managed with near-complete resection and adjuvant radiotherapy: a case report. 61
33468988 2021
14
Mediastinal Anaplastic Ependymoma. 61
33767021 2021
15
The potentially therapeutic targets of pediatric anaplastic ependymoma by transcriptome profiling. 61
32940047 2021
16
Ependymoma with C11orf95-MAML2 fusion: presenting with granular cell and ganglion cell features. 61
33221956 2021
17
Cervicodorsal extramedullary anaplastic ependymoma with intracranial metastasis. 61
33189738 2020
18
Ependymoma, NOS and anaplastic ependymoma incidence and survival in the United States varies widely by patient and clinical characteristics, 2000-2016. 61
33014396 2020
19
Comparison of Conventional, Diffusion, and Perfusion MRI Between Low-Grade and Anaplastic Extraventricular Ependymoma. 61
32809860 2020
20
RELA fusion-positive ependymoma accompanied by extensive desmoplasia: a case report. 61
32754892 2020
21
cIMPACT-NOW update 7: advancing the molecular classification of ependymal tumors. 61
32502305 2020
22
Fahr's disease associated with anaplastic ependymoma: a case report and review of the literature. 61
32909453 2020
23
Cancer treatment in disabled children. 61
32140854 2020
24
THE SPECTRUM OF UNDERLYING DISEASES IN CHILDREN WITH TORTICOLLIS. 61
33759163 2020
25
Corrigendum to 'Anaplastic ependymoma metastases through a ventriculoperitoneal shunt' [Radiology Case Reports 15 (2020) 650-654]. 61
32642007 2020
26
TSC2 alterations in anaplastic ependymoma progression to ependymosarcoma. 61
32017698 2020
27
Anaplastic ependymoma metastases though a ventriculoperitoneal shunt. 61
32280394 2020
28
Treatment outcome of anaplastic ependymoma under the age of 3 treated by intensity-modulated radiotherapy. 61
32229806 2020
29
Extraneural metastatic anaplastic ependymoma: a systematic review and a report of metastases to bilateral parotid glands. 61
32626590 2020
30
Myalgia and Hematuria in Association with Clonidine and Arginine Administration for Growth Hormone Stimulation Tests. 61
32547619 2020
31
Acute and chronic hemorrhage from radiation-induced cavernous malformation associated with late-delayed radiation necrosis in long surviving glioma patients: A case report. 61
31897165 2020
32
Contralateral Ventriculostomy for Intraoperative Brain Relaxation in Supratentorial Brain Tumors. 61
32129267 2020
33
[Visual fluorescence combined with laser spectroscopy in surgery for intramedullary spinal cord tumors]. 61
33306295 2020
34
MYCN amplification drives an aggressive form of spinal ependymoma. 61
31414211 2019
35
World Health Organization Grade III Supratentorial Extraventricular Ependymomas in Adults: Case Series and Review of Treatment Modalities. 61
31903356 2019
36
Sudden Unexpected Death in a Child From an Anaplastic Ependymoma. 61
30958386 2019
37
Anaplastic Ependymoma and Posterior Fossa Grouping in a Patient With H3K27ME3 Loss of Expression but Chromosomal Imbalance. 61
31360801 2019
38
New therapeutic target for pediatric anaplastic ependymoma control: study of anti-tumor activity by a Kunitz-type molecule, Amblyomin-X. 61
31292491 2019
39
Anaplastic ependymoma arising from the lower segment of the uterine corpus: Case report and literature review. 61
31060102 2019
40
5-ALA fluorescence-guided surgery in pediatric brain tumors-a systematic review. 61
30989383 2019
41
A Case of Recurrent Supratentorial Extraventricular Anaplastic Ependymoma in Adult. 61
31062531 2019
42
Intracranial Neoplasms in the First Year of Life: Results of a Third Cohort of Patients From a Single Institution. 61
29617945 2019
43
Microsurgical Resection of Anaplastic Ependymoma of the Cerebellopontine Angle in an Adult: 3-Dimensional Operative Video. 61
30295880 2019
44
Radiosurgery or hypofractionated stereotactic radiotherapy after craniospinal irradiation in children and adults with medulloblastoma and ependymoma. 61
30515559 2019
45
Telovelar Approach to Pediatric Fourth Ventricle Tumors: Feasibility and Outcome. 61
30649815 2019
46
Stroke-Like Migraine Attacks after Radiation Therapy Syndrome: Clinical and Imaging Characteristics. 61
31448156 2019
47
Diagnostic errors during intramedullar processes. 61
30796877 2019
48
Charcot-Marie-Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition. 61
31916723 2019
49
Mutation profiling of anaplastic ependymoma grade III by Ion Proton next generation DNA sequencing. 61
32612806 2019
50
Individualized treatment for a case of recurrent ovarian ependymoma. 61
30588035 2019

Variations for Anaplastic Ependymoma

ClinVar genetic disease variations for Anaplastic Ependymoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNF213-AS1 , RNF213 NM_001256071.3(RNF213):c.12841C>T (p.Arg4281Trp) SNV other 438786 rs765980348 GRCh37: 17:78346864-78346864
GRCh38: 17:80373064-80373064
2 overlap with 44 genes inv(22)(q12.2q12.2) Inversion Likely pathogenic 634999 GRCh37: 22:29684716-31740655
GRCh38:
3 RUNX1 NM_001001890.3(RUNX1):c.74T>A (p.Met25Lys) SNV Uncertain significance 239044 rs200431130 GRCh37: 21:36259336-36259336
GRCh38: 21:34887039-34887039
4 PALB2 NM_024675.3(PALB2):c.3249G>C (p.Glu1083Asp) SNV Uncertain significance 126726 rs147045425 GRCh37: 16:23619286-23619286
GRCh38: 16:23607965-23607965

Expression for Anaplastic Ependymoma

Search GEO for disease gene expression data for Anaplastic Ependymoma.

Pathways for Anaplastic Ependymoma

GO Terms for Anaplastic Ependymoma

Cellular components related to Anaplastic Ependymoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 8.92 VIM SYP PTEN NF2

Biological processes related to Anaplastic Ependymoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament organization GO:0045109 9.37 VIM GFAP
2 astrocyte development GO:0014002 9.32 VIM GFAP
3 response to inorganic substance GO:0010035 9.26 RELA PTEN
4 Bergmann glial cell differentiation GO:0060020 9.16 VIM GFAP
5 intermediate filament-based process GO:0045103 8.96 VIM GFAP
6 negative regulation of neuron projection development GO:0010977 8.92 VIM PTEN MDM2 GFAP

Molecular functions related to Anaplastic Ependymoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.17 VIM SYP S100B RELA PTEN MDM2

Sources for Anaplastic Ependymoma

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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