MCID: PLM020
MIFTS: 42

Pleomorphic Xanthoastrocytoma

Categories: Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Pleomorphic Xanthoastrocytoma

MalaCards integrated aliases for Pleomorphic Xanthoastrocytoma:

Name: Pleomorphic Xanthoastrocytoma 12 50 56 14 69
Pxa 50 56
Pleomorphic Xantho-Astrocytoma 12

Characteristics:

Orphanet epidemiological data:

56
pleomorphic xanthoastrocytoma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4852
NCIt 47 C4323
SNOMED-CT 64 189924002 78838008
Orphanet 56 ORPHA251607
UMLS via Orphanet 70 C0334586
ICD10 via Orphanet 34 C71.9
UMLS 69 C0334586

Summaries for Pleomorphic Xanthoastrocytoma

MalaCards based summary : Pleomorphic Xanthoastrocytoma, also known as pxa, is related to giant cell glioblastoma and devriendt syndrome, and has symptoms including seizures An important gene associated with Pleomorphic Xanthoastrocytoma is GFAP (Glial Fibrillary Acidic Protein), and among its related pathways/superpathways are G-protein signaling Ras family GTPases in kinase cascades (scheme) and Glioblastoma Multiforme. The drugs Cyproheptadine and Histamine have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and spinal cord, and related phenotypes are Decreased viability in esophageal squamous lineage and Increased proliferation

Wikipedia : 72 Pleomorphic xanthoastrocytoma (PXA) is a brain tumor that occurs most frequently in children and... more...

Related Diseases for Pleomorphic Xanthoastrocytoma

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

(show top 50) (show all 208)
id Related Disease Score Top Affiliating Genes
1 giant cell glioblastoma 29.2 GFAP IDH1 MGMT TP53
2 devriendt syndrome 10.7 GFAP SYP
3 laryngeal neuroendocrine tumor 10.7 BRAF GFAP
4 dystonia 10.7 GFAP SYP
5 cerebellar astrocytoma 10.7 GFAP SYP
6 epidermal appendage tumor 10.6 GFAP SYP
7 cauda equina intradural extramedullary astrocytoma 10.6 GFAP SYP
8 cauda equina neoplasm 10.6 GFAP SYP
9 axonal neuropathy 10.6 GFAP SYP
10 anaplastic oligodendroglioma 10.6 GFAP SYP
11 malignant granular cell myoblastoma 10.6 GFAP SYP
12 behcet's syndrome arthropathy 10.6 GFAP SYP
13 space motion sickness 10.6 GFAP SYP
14 nodular medulloblastoma 10.6 GFAP SMARCB1
15 central neurocytoma 10.6 GFAP SYP
16 thymus large cell carcinoma 10.6 SMARCB1 SYP
17 functional colonic disease 10.6 GFAP SMARCB1
18 omphalomesenteric cyst 10.6 GFAP MGMT
19 pneumothorax 10.6 GFAP SYP
20 mirror polydactyly-vertebral segmentation-limbs defects syndrome 10.5 BRAF TP53
21 split hand split foot nystagmus 10.5 BRAF TP53
22 coloboma of inferior eyelid 10.5 BRAF TP53
23 mixed epithelial stromal tumour 10.5 GFAP SYP
24 lichen nitidus 10.5 BRAF TP53
25 pancoast tumor 10.5 GFAP TP53
26 brain stem astrocytic neoplasm 10.5 GFAP TP53
27 renal pelvis urothelial papilloma 10.5 GFAP TP53
28 tendon sheath lipoma 10.5 GFAP TP53
29 hair disease 10.5 SYP TP53
30 malignant syringoma 10.5 BRAF TP53
31 third cranial nerve disease 10.4 GFAP TP53
32 retinal detachment 10.4 SYP TP53
33 hemoglobinemia 10.4 GFAP MAP2
34 aggressive systemic mastocytosis 10.4 GFAP TP53
35 olfactory neural tumor 10.4 SYP TP53
36 immune system organ benign neoplasm 10.4 SYP TP53
37 subependymal giant cell astrocytoma 10.4 GFAP TP53
38 pineal gland astrocytoma 10.4 BRAF IDH1
39 glomangioma 10.4 SYP TP53
40 migraine with aura 10.4 SYP TP53
41 rectum squamous cell carcinoma 10.4 MGMT TP53
42 hypersensitivity reaction type iii disease 10.4 SYP TP53
43 biliary dyskinesia 10.4 SYP TP53
44 breast reconstruction 10.4 GFAP MAP2
45 glioblastoma 10.3
46 familial episodic pain syndrome 10.3 BRAF TP53
47 bone development disease 10.3 SYP TP53
48 ascaridiasis 10.3 SMARCB1 TP53
49 ganglioglioma 10.3
50 basosquamous carcinoma 10.3 BRAF GFAP SMARCB1

Graphical network of the top 20 diseases related to Pleomorphic Xanthoastrocytoma:



Diseases related to Pleomorphic Xanthoastrocytoma

Symptoms & Phenotypes for Pleomorphic Xanthoastrocytoma

UMLS symptoms related to Pleomorphic Xanthoastrocytoma:


seizures

GenomeRNAi Phenotypes related to Pleomorphic Xanthoastrocytoma according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.5 BRAF CHGA GFAP IDH1 MAP2 SMARCB1
2 Increased proliferation GR00094-A 8.62 SMARCB1 TP53

MGI Mouse Phenotypes related to Pleomorphic Xanthoastrocytoma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.5 SMARCB1 TP53 BRAF CHGA GFAP IDH1
2 mortality/aging MP:0010768 9.23 BRAF CHGA GFAP IDH1 MAP2 MGMT

Drugs & Therapeutics for Pleomorphic Xanthoastrocytoma

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

(show top 50) (show all 54)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyproheptadine Approved Phase 3 129-03-3 2913
2
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
3 Dermatologic Agents Phase 3,Phase 1
4 Anti-Allergic Agents Phase 3
5 Antipruritics Phase 3
6 Gastrointestinal Agents Phase 3
7 Histamine Antagonists Phase 3
8 Histamine H1 Antagonists Phase 3
9
Histamine Phosphate Phase 3 51-74-1 65513
10 Neurotransmitter Agents Phase 3
11
Serotonin Phase 3 50-67-9 5202
12 Serotonin Agents Phase 3
13 Serotonin Antagonists Phase 3
14
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
15
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 498142 38904
16
Dacarbazine Approved, Investigational Phase 1, Phase 2 4342-03-4 5351166
17
Irinotecan Approved, Investigational Phase 1, Phase 2 97682-44-5, 100286-90-6 60838
18
Mebendazole Approved, Vet_approved Phase 1, Phase 2 31431-39-7 4030
19
Piperazine Approved, Vet_approved Phase 1, Phase 2 110-85-0 4837
20
Temozolomide Approved, Investigational Phase 1, Phase 2 85622-93-1 5394
21
Vincristine Approved, Investigational Phase 1, Phase 2 2068-78-2, 57-22-7 5978
22
Crizotinib Approved Phase 1, Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
23 Alkylating Agents Phase 1, Phase 2
24 Angiogenesis Inhibitors Phase 1, Phase 2
25 Angiogenesis Modulating Agents Phase 1, Phase 2
26 Anthelmintics Phase 1, Phase 2
27 Anticonvulsants Phase 1, Phase 2
28 Anti-Infective Agents Phase 1, Phase 2
29 Antimitotic Agents Phase 1, Phase 2
30 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
31 Antiparasitic Agents Phase 1, Phase 2
32 Piperazine citrate Phase 1, Phase 2
33 topoisomerase I inhibitors Phase 1, Phase 2
34 Topoisomerase Inhibitors Phase 1, Phase 2
35 Protein Kinase Inhibitors Phase 1, Phase 2
36 Citrate Nutraceutical Phase 1, Phase 2
37
Citric Acid Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
38
Trioxsalen Approved Phase 1 3902-71-4 5585
39
Verteporfin Approved, Investigational Phase 1 129497-78-5
40
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
41
Niacin Approved, Investigational, Nutraceutical Phase 1 59-67-6 938
42
Nicotinamide Approved, Nutraceutical Phase 1 98-92-0 936
43 Dihematoporphyrin Ether Phase 1
44 Photosensitizing Agents Phase 1
45 Micronutrients Phase 1
46 Nicotinic Acids Phase 1
47 Trace Elements Phase 1
48 Vitamin B Complex Phase 1
49 Vitamins Phase 1
50 Anesthetics Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
2 A Phase I Study of Mebendazole for the Treatment of Pediatric Gliomas Recruiting NCT01837862 Phase 1, Phase 2 Mebendazole;Vincristine;Carboplatin;Temozolomide;Bevacizumab;Irinotecan
3 Crizotinib in Treating Young Patients With Relapsed or Refractory Solid Tumors or Anaplastic Large Cell Lymphoma Active, not recruiting NCT00939770 Phase 1, Phase 2 crizotinib
4 Photodynamic Therapy With Porfimer Sodium in Treating Patients With Refractory Brain Tumors Unknown status NCT00002647 Phase 1 verteporfin
5 Imetelstat Sodium in Treating Young Patients With Refractory or Recurrent Solid Tumors or Lymphoma Completed NCT01273090 Phase 1 imetelstat sodium
6 Phase 1b Study PVSRIPO for Recurrent Malignant Glioma in Children Recruiting NCT03043391 Phase 1
7 Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors Withdrawn NCT02194452

Search NIH Clinical Center for Pleomorphic Xanthoastrocytoma

Genetic Tests for Pleomorphic Xanthoastrocytoma

Anatomical Context for Pleomorphic Xanthoastrocytoma

MalaCards organs/tissues related to Pleomorphic Xanthoastrocytoma:

39
Brain, Temporal Lobe, Spinal Cord, Pineal, Cerebellum, Testes, Medulla Oblongata

Publications for Pleomorphic Xanthoastrocytoma

Articles related to Pleomorphic Xanthoastrocytoma:

(show top 50) (show all 239)
id Title Authors Year
1
Recurrent copy number alterations in low-grade and anaplastic pleomorphic xanthoastrocytoma with and without BRAF V600E mutation. ( 28181325 )
2017
2
Primary pleomorphic xanthoastrocytoma of the spinal cord: A case report and review of literature. ( 28761545 )
2017
3
Dabrafenib in BRAFV600-mutated anaplastic pleomorphic xanthoastrocytoma. ( 27781490 )
2017
4
A novel, potentially targetable TMEM106B-BRAF fusion in pleomorphic xanthoastrocytoma. ( 28299358 )
2017
5
Ganglioglioma progression to combined anaplastic ganglioglioma and anaplastic pleomorphic xanthoastrocytoma. Case report and literature review. ( 28939541 )
2017
6
Atypical teratoid rhabdoid tumor arising in a pleomorphic xanthoastrocytoma: a rare entity. ( 28502320 )
2017
7
Cytologic features of pleomorphic xanthoastrocytoma, WHO grade II. A comparative study with glioblastoma. ( 28084690 )
2017
8
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history. ( 28699883 )
2017
9
Parieto-temporal pleomorphic xanthoastrocytoma in a black African child. ( 28484558 )
2017
10
Anaplastic Pleomorphic Xanthoastrocytoma in a Case of Neurofibromatosis Type 1: A Case Report. ( 28571159 )
2017
11
BRAF/MEK double blockade in refractory anaplastic pleomorphic xanthoastrocytoma. ( 28235815 )
2017
12
Pleomorphic xanthoastrocytoma with anaplastic features: A rare case report and review of literature with reference to current management. ( 27366280 )
2016
13
MGMT Promoter Methylation and BRAF V600E Mutations Are Helpful Markers to Discriminate Pleomorphic Xanthoastrocytoma from Giant Cell Glioblastoma. ( 27253461 )
2016
14
Combined pleomorphic xanthoastrocytoma-ganglioglioma with BRAF V600E mutation: case report. ( 27015517 )
2016
15
Perioperative Outcomes in Intracranial Pleomorphic Xanthoastrocytoma. ( 27183324 )
2016
16
Pediatric Pleomorphic Xanthoastrocytoma Treated With Surgical Resection Alone: Clinicopathologic Features. ( 27123665 )
2016
17
Pleomorphic xanthoastrocytoma arising from the suprasellar region: A report of two cases. ( 27452134 )
2016
18
BRAF-Mutated Pleomorphic Xanthoastrocytoma of the Spinal Cord with Eventual Anaplastic Transformation. ( 27956254 )
2016
19
Glioblastoma multiforme versus pleomorphic xanthoastrocytoma with anaplastic features in the pathological diagnosis: a case report. ( 27449352 )
2016
20
Pleomorphic Xanthoastrocytoma with anaplastic features: a retrospective case series. ( 27476694 )
2016
21
Melanosomal melanin pigment in pleomorphic xanthoastrocytoma, evidence for neuronal-glial origin: A case report with review of the literature. ( 27645472 )
2016
22
Activating NRF1-BRAF and ATG7-RAF1 fusions in anaplastic pleomorphic xanthoastrocytoma without BRAF p.V600E mutation. ( 27624885 )
2016
23
Pleomorphic Xanthoastrocytoma with Anaplastic Features in the Tectal Region in a Young Adult Patient: A Case Report. ( 27521728 )
2016
24
Angiomatous pleomorphic xanthoastrocytoma: a case report and literature review. ( 27506610 )
2016
25
Primary anaplastic pleomorphic xanthoastrocytoma in adults. Case report and review of literature. ( 27639203 )
2016
26
Spinal pleomorphic xanthoastrocytoma companied with periventricular tumor. ( 25755815 )
2015
27
BRAF V600E mutation: A treatable driver mutation in pleomorphic xanthoastrocytoma (PXA). ( 25811650 )
2015
28
Cerebellar pleomorphic xanthoastrocytoma in a patient with neurofibromatosis type 1: a case report and literature review. ( 26261671 )
2015
29
Anaplastic pleomorphic xanthoastrocytoma with spinal leptomeningeal spread at the time of diagnosis in an adult. ( 25934112 )
2015
30
Primary Meningeal Pleomorphic Xanthoastrocytoma With Anaplastic Features: A Report of 2 Cases, One With BRAF(V600E) Mutation and Clinical Response to the BRAF Inhibitor Dabrafenib. ( 26352988 )
2015
31
BRAF mutation and anaplasia may be predictive factors of progression-free survival in adult pleomorphic xanthoastrocytoma. ( 26454767 )
2015
32
Epithelioid glioblastoma arising from pleomorphic xanthoastrocytoma with the BRAF V600E mutation. ( 24894018 )
2014
33
Pleomorphic xanthoastrocytoma in a case of tuberous sclerosis. ( 25002765 )
2014
34
Pleomorphic xanthoastrocytoma with anaplastic features: a case report. ( 24739844 )
2014
35
Intraventricular pleomorphic xanthoastrocytoma: a case report. ( 25448222 )
2014
36
Successful Treatment of a Progressive BRAF V600E-Mutated Anaplastic Pleomorphic Xanthoastrocytoma With Vemurafenib Monotherapy. ( 25092772 )
2014
37
Molecular Pathology: SC18-1 INTERESTING CASE - ACTIONABLE MUTATION IN A CASE WITH A RECURRENT PLEOMORPHIC XANTHOASTROCYTOMA WITH ANAPLASTIC FEATURES. ( 25188122 )
2014
38
DNA methylation alterations in grade II- and anaplastic pleomorphic xanthoastrocytoma. ( 24650279 )
2014
39
Atypical teratoid/rhabdoid tumor arising in pleomorphic xanthoastrocytoma: a case report. ( 25268025 )
2014
40
Pleomorphic Xanthoastrocytoma: Natural History and Long-term Follow-up. ( 25318587 )
2014
41
Pleomorphic Xanthoastrocytoma Within the Medulla Oblongata of a Young Dog. ( 24686391 )
2014
42
Pleomorphic Xanthoastrocytoma Arising from Olfactory Groove: A Rare Location for a Rare Tumor. ( 25247328 )
2014
43
Does the occurrence of pleomorphic xanthoastrocytoma in the elderly carries a poor prognosis: A case report and review of literature. ( 25685227 )
2014
44
Pleomorphic xanthoastrocytoma: report of two cases with unconventional clinical presentations. ( 25034704 )
2014
45
Composite pleomorphic xanthoastrocytoma-epithelioid glioneuronal tumor with BRAF V600E mutation - report of three cases. ( 24321241 )
2014
46
Pleomorphic Xanthoastrocytoma of Childhood: MR Imaging and Diffusion MR Imaging Features. ( 24994821 )
2014
47
Pleomorphic xanthoastrocytoma of the spinal cord: case report and literature review. ( 24495348 )
2014
48
Salvage therapy with BRAF inhibitors for recurrent pleomorphic xanthoastrocytoma: a retrospective case series. ( 23756728 )
2013
49
BRAF-Mutated Pleomorphic Xanthoastrocytoma is Associated with Temporal Location, Reticulin Fiber Deposition and CD34 Expression. ( 24345274 )
2013
50
Case of pleomorphic xanthoastrocytoma with anaplastic features in the pineal gland. ( 23460303 )
2013

Variations for Pleomorphic Xanthoastrocytoma

ClinVar genetic disease variations for Pleomorphic Xanthoastrocytoma:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 subset of 687 genes:AUTS2; BRAF; ELN; FOXP2; GLI3; SEMA3A; SGCE; TBX20; TWIST1 TMEM106B-BRAF fusion deletion Pathogenic GRCh37 Chromosome 7, 12258147: 140494267

Copy number variations for Pleomorphic Xanthoastrocytoma from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 38148 10 1 135374737 Gain Pleomorphic xanthoastrocytoma
2 157040 21 1 46944323 Gain Pleomorphic xanthoastrocytoma
3 157748 21 22668778 24107000 Heterozygous deletio n Pleomorphic xanthoastrocytoma
4 158799 21 37028079 37104999 Heterozygous deletio n Pleomorphic xanthoastrocytoma
5 158888 21 37727512 38987173 Heterozygous deletio n Pleomorphic xanthoastrocytoma
6 161080 22 17257787 19792353 Heterozygous deletio n Pleomorphic xanthoastrocytoma
7 217044 7 1 158821424 Gain Pleomorphic xanthoastrocytoma
8 244852 9 1 140273252 Copy number LOH Pleomorphic xanthoastrocytoma
9 250077 9 19930143 20420468 Duplication with LOH Pleomorphic xanthoastrocytoma
10 250201 9 20451775 23120500 Homozygous deletion Pleomorphic xanthoastrocytoma

Expression for Pleomorphic Xanthoastrocytoma

Search GEO for disease gene expression data for Pleomorphic Xanthoastrocytoma.

Pathways for Pleomorphic Xanthoastrocytoma

GO Terms for Pleomorphic Xanthoastrocytoma

Cellular components related to Pleomorphic Xanthoastrocytoma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 8.32 BRAF

Biological processes related to Pleomorphic Xanthoastrocytoma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cellular response to organic substance GO:0071310 8.96 MAP2 SYP
2 long-term synaptic potentiation GO:0060291 8.85 BRAF
3 cellular response to ionizing radiation GO:0071479 8.62 MGMT TP53

Sources for Pleomorphic Xanthoastrocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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