PXA
MCID: PLM020
MIFTS: 42

Pleomorphic Xanthoastrocytoma (PXA) malady

Categories: Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Pleomorphic Xanthoastrocytoma

Aliases & Descriptions 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
ICD10 via Orphanet 34 C71.9
UMLS via Orphanet 70 C0334586
UMLS 69 C0334586

Summaries for Pleomorphic Xanthoastrocytoma

MalaCards based summary : Pleomorphic Xanthoastrocytoma, also known as pxa, is related to pilocytic astrocytoma and glioblastoma, 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 : 71 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 193)
id Related Disease Score Top Affiliating Genes
1 pilocytic astrocytoma 30.1 GFAP SYP
2 glioblastoma 10.4
3 ganglioglioma 10.3
4 neurofibromatosis 10.3
5 diabetes hypogonadism deafness mental retardation 10.3 GFAP SYP
6 papillary tumor of the pineal region 10.3 GFAP SYP
7 biliary papillomatosis 10.3 BRAF GFAP
8 intrahepatic bile duct adenoma 10.3 GFAP SYP
9 pilocytic astrocytoma of cerebellum 10.3 GFAP SYP
10 epidermal appendage tumor 10.3 GFAP SYP
11 nephrogenic adenoma of urinary bladder 10.3 GFAP SYP
12 cerebral folate receptor alpha deficiency 10.3 GFAP SYP
13 behcet's syndrome arthropathy 10.3 GFAP SYP
14 well-differentiated thymic neuroendocrine carcinoma 10.3 BRAF TP53
15 pineal gland astrocytoma 10.3 BRAF TP53
16 aneurysm of sinus of valsalva 10.3 GFAP SYP
17 spondylarthropathy 10.3 BRAF TP53
18 male reproductive system disease 10.3 GFAP SYP
19 mediastinal granular cell myoblastoma 10.3 GFAP SYP
20 thrombophlebitis 10.3 GFAP SMARCB1
21 tmem70 defect 10.3 BRAF TP53
22 central neurocytoma 10.2 GFAP SYP
23 infantile thalamic degeneration 10.2 BRAF TP53
24 scarlet fever 10.2 BRAF TP53
25 liver fibrosarcoma 10.2 GFAP TP53
26 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 10.2 GFAP SYP
27 cervical adenoid cystic carcinoma 10.2 GFAP TP53
28 ovarian large-cell neuroendocrine carcinoma 10.2 SMARCB1 SYP
29 familial hypopituitarism 10.2 BRAF TP53
30 intestinal pseudo-obstruction 10.2 GFAP SMARCB1
31 neurofibromatosis, type 1 10.2
32 bronchitis 10.2 GFAP TP53
33 bile duct clear cell adenocarcinoma 10.2 GFAP TP53
34 pneumothorax 10.2 GFAP SYP
35 porokeratosis 10.2 GFAP TP53
36 kidney disease 10.2 SYP TP53
37 inhibited male orgasm 10.2 BRAF TP53
38 auricular cancer 10.2 GFAP SYP
39 adult brainstem gliosarcoma 10.2 GFAP TP53
40 middle ear disease 10.2 GFAP TP53
41 ophn1 syndrome 10.2 GFAP MGMT
42 bone deterioration disease 10.2 SYP TP53
43 paraphimosis 10.2 SYP TP53
44 mixed epithelial stromal tumour 10.2 GFAP TP53
45 astrocytoma 10.2
46 gallbladder pleomorphic giant cell adenocarcinoma 10.2 SYP TP53
47 adult epithelioid sarcoma 10.2 SYP TP53
48 childhood embryonal testis carcinoma 10.2 GFAP TP53
49 peroneal nerve paralysis 10.2 CHGA SYP
50 glomangioma 10.2 SYP TP53

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 MAP2 SMARCB1 SYNM TP53 BRAF CHGA
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 behavior/neurological MP:0005386 9.5 SYP TP53 BRAF GFAP MAP2 SMARCB1
2 muscle MP:0005369 9.02 BRAF GFAP SMARCB1 SYNM TP53

Drugs & Therapeutics for Pleomorphic Xanthoastrocytoma

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

(show top 50) (show all 55)
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, Alkylating Phase 1, Phase 2
31 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
32 Antiparasitic Agents Phase 1, Phase 2
33 Piperazine citrate Phase 1, Phase 2
34 topoisomerase I inhibitors Phase 1, Phase 2
35 Topoisomerase Inhibitors Phase 1, Phase 2
36 Protein Kinase Inhibitors Phase 1, Phase 2
37 Citrate Nutraceutical Phase 1, Phase 2
38
Citric Acid Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
39
Trioxsalen Approved Phase 1 3902-71-4 5585
40
Verteporfin Approved, Investigational Phase 1 129497-78-5
41
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
42
Niacin Approved, Investigational, Nutraceutical Phase 1 59-67-6 938
43
Nicotinamide Approved, Nutraceutical Phase 1 98-92-0 936
44 Dihematoporphyrin Ether Phase 1
45 Photosensitizing Agents Phase 1
46 Micronutrients Phase 1
47 Nicotinic Acids Phase 1
48 Trace Elements Phase 1
49 Vitamin B Complex Phase 1
50 Vitamins Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3
2 A Phase I Study of Mebendazole for the Treatment of Pediatric Gliomas Recruiting NCT01837862 Phase 1, Phase 2
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
4 Photodynamic Therapy With Porfimer Sodium in Treating Patients With Refractory Brain Tumors Unknown status NCT00002647 Phase 1
5 Imetelstat Sodium in Treating Young Patients With Refractory or Recurrent Solid Tumors or Lymphoma Completed NCT01273090 Phase 1
6 Phase 1b Study PVSRIPO for Recurrent Malignant Glioma in Children Not yet 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 230)
id Title Authors Year
1
Dabrafenib in BRAFV600-mutated anaplastic pleomorphic xanthoastrocytoma. ( 27781490 )
2017
2
Cytologic features of pleomorphic xanthoastrocytoma, WHO grade II. A comparative study with glioblastoma. ( 28084690 )
2017
3
Pleomorphic xanthoastrocytoma with anaplastic features: A rare case report and review of literature with reference to current management. ( 27366280 )
2016
4
Melanosomal melanin pigment in pleomorphic xanthoastrocytoma, evidence for neuronal-glial origin: A case report with review of the literature. ( 27645472 )
2016
5
Pediatric Pleomorphic Xanthoastrocytoma Treated With Surgical Resection Alone: Clinicopathologic Features. ( 27123665 )
2016
6
Pleomorphic Xanthoastrocytoma with Anaplastic Features in the Tectal Region in a Young Adult Patient: A Case Report. ( 27521728 )
2016
7
Glioblastoma multiforme versus pleomorphic xanthoastrocytoma with anaplastic features in the pathological diagnosis: a case report. ( 27449352 )
2016
8
Combined pleomorphic xanthoastrocytoma-ganglioglioma with BRAF V600E mutation: case report. ( 27015517 )
2016
9
BRAF-Mutated Pleomorphic Xanthoastrocytoma of the Spinal Cord with Eventual Anaplastic Transformation. ( 27956254 )
2016
10
Angiomatous pleomorphic xanthoastrocytoma: a case report and literature review. ( 27506610 )
2016
11
Pleomorphic xanthoastrocytoma arising from the suprasellar region: A report of two cases. ( 27452134 )
2016
12
Primary anaplastic pleomorphic xanthoastrocytoma in adults. Case report and review of literature. ( 27639203 )
2016
13
Perioperative Outcomes in Intracranial Pleomorphic Xanthoastrocytoma. ( 27183324 )
2016
14
MGMT Promoter Methylation and BRAF V600E Mutations Are Helpful Markers to Discriminate Pleomorphic Xanthoastrocytoma from Giant Cell Glioblastoma. ( 27253461 )
2016
15
Pleomorphic Xanthoastrocytoma with anaplastic features: a retrospective case series. ( 27476694 )
2016
16
Activating NRF1-BRAF and ATG7-RAF1 fusions in anaplastic pleomorphic xanthoastrocytoma without BRAF p.V600E mutation. ( 27624885 )
2016
17
BRAF V600E mutation: A treatable driver mutation in pleomorphic xanthoastrocytoma (PXA). ( 25811650 )
2015
18
Cerebellar pleomorphic xanthoastrocytoma in a patient with neurofibromatosis type 1: a case report and literature review. ( 26261671 )
2015
19
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
20
Spinal pleomorphic xanthoastrocytoma companied with periventricular tumor. ( 25755815 )
2015
21
BRAF mutation and anaplasia may be predictive factors of progression-free survival in adult pleomorphic xanthoastrocytoma. ( 26454767 )
2015
22
Anaplastic pleomorphic xanthoastrocytoma with spinal leptomeningeal spread at the time of diagnosis in an adult. ( 25934112 )
2015
23
Does the occurrence of pleomorphic xanthoastrocytoma in the elderly carries a poor prognosis: A case report and review of literature. ( 25685227 )
2014
24
Atypical teratoid/rhabdoid tumor arising in pleomorphic xanthoastrocytoma: a case report. ( 25268025 )
2014
25
Pleomorphic Xanthoastrocytoma: Natural History and Long-term Follow-up. ( 25318587 )
2014
26
Epithelioid glioblastoma arising from pleomorphic xanthoastrocytoma with the BRAF V600E mutation. ( 24894018 )
2014
27
Molecular Pathology: SC18-1 INTERESTING CASE - ACTIONABLE MUTATION IN A CASE WITH A RECURRENT PLEOMORPHIC XANTHOASTROCYTOMA WITH ANAPLASTIC FEATURES. ( 25188122 )
2014
28
Pleomorphic xanthoastrocytoma: report of two cases with unconventional clinical presentations. ( 25034704 )
2014
29
Successful Treatment of a Progressive BRAF V600E-Mutated Anaplastic Pleomorphic Xanthoastrocytoma With Vemurafenib Monotherapy. ( 25092772 )
2014
30
Composite pleomorphic xanthoastrocytoma-epithelioid glioneuronal tumor with BRAF V600E mutation - report of three cases. ( 24321241 )
2014
31
Pleomorphic xanthoastrocytoma of the spinal cord: case report and literature review. ( 24495348 )
2014
32
Pleomorphic Xanthoastrocytoma Within the Medulla Oblongata of a Young Dog. ( 24686391 )
2014
33
Pleomorphic Xanthoastrocytoma of Childhood: MR Imaging and Diffusion MR Imaging Features. ( 24994821 )
2014
34
Pleomorphic xanthoastrocytoma with anaplastic features: a case report. ( 24739844 )
2014
35
Intraventricular pleomorphic xanthoastrocytoma: a case report. ( 25448222 )
2014
36
Pleomorphic xanthoastrocytoma in a case of tuberous sclerosis. ( 25002765 )
2014
37
DNA methylation alterations in grade II- and anaplastic pleomorphic xanthoastrocytoma. ( 24650279 )
2014
38
Pleomorphic Xanthoastrocytoma Arising from Olfactory Groove: A Rare Location for a Rare Tumor. ( 25247328 )
2014
39
Aggressive behavior and anaplasia in pleomorphic xanthoastrocytoma: a plea for a revision of the current WHO classification. ( 25054822 )
2013
40
Case of pleomorphic xanthoastrocytoma with anaplastic features in the pineal gland. ( 23460303 )
2013
41
BRAF-Mutated Pleomorphic Xanthoastrocytoma is Associated with Temporal Location, Reticulin Fiber Deposition and CD34 Expression. ( 24345274 )
2013
42
Pleomorphic xanthoastrocytoma: long-term results of surgical treatment and analysis of prognostic factors. ( 23514331 )
2013
43
The coexistence of pleomorphic xanthoastrocytoma and arteriovenous malformation. A case report. ( 24114645 )
2013
44
Dysembryoplastic neuroepithelial tumors share with pleomorphic xanthoastrocytomas and gangliogliomas BRAF(V600E) mutation and expression. ( 23442159 )
2013
45
Salvage therapy with BRAF inhibitors for recurrent pleomorphic xanthoastrocytoma: a retrospective case series. ( 23756728 )
2013
46
Primary multicentric anaplastic pleomorphic xanthoastrocytoma with atypical features. ( 23827171 )
2013
47
Nonanaplastic Pleomorphic Xanthoastrocytoma with Meningeal Dissemination Presenting with Bilateral Visual Loss. ( 23701304 )
2013
48
Immunohistochemistry is highly sensitive and specific for detection of BRAF V600E mutation in pleomorphic xanthoastrocytoma. ( 24252190 )
2013
49
Pleomorphic xanthoastrocytoma: magnetic resonance imaging findings in a series of cases with histopathological confirmation. ( 23249973 )
2013
50
Prognostic factors and therapeutic outcomes in 22 patients with pleomorphic xanthoastrocytoma. ( 23908701 )
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; 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

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 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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