PXA
MCID: PLM020
MIFTS: 44

Pleomorphic Xanthoastrocytoma (PXA)

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pleomorphic Xanthoastrocytoma

MalaCards integrated aliases for Pleomorphic Xanthoastrocytoma:

Name: Pleomorphic Xanthoastrocytoma 12 53 59 6 15 73
Pxa 53 59
Pleomorphic Xantho-Astrocytoma 12

Characteristics:

Orphanet epidemiological data:

59
pleomorphic xanthoastrocytoma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4852
NCIt 50 C4323
SNOMED-CT 68 78838008
Orphanet 59 ORPHA251607
ICD10 via Orphanet 34 C71.9
UMLS via Orphanet 74 C0334586
UMLS 73 C0334586

Summaries for Pleomorphic Xanthoastrocytoma

MalaCards based summary : Pleomorphic Xanthoastrocytoma, also known as pxa, is related to glioblastoma and glioma susceptibility 1, and has symptoms including seizures An important gene associated with Pleomorphic Xanthoastrocytoma is GFAP (Glial Fibrillary Acidic Protein), and among its related pathways/superpathways is Glioblastoma Multiforme. The drugs Histamine and Cyproheptadine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and pineal, and related phenotypes are Increased proliferation and growth/size/body region

Wikipedia : 76 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 202)
# Related Disease Score Top Affiliating Genes
1 glioblastoma 30.6 BRAF IDH1 MGMT TP53
2 glioma susceptibility 1 30.4 GFAP IDH1 TP53
3 rhabdoid cancer 30.4 SMARCB1 SYP TP53
4 desmoplastic infantile ganglioglioma 30.4 GFAP SYP
5 pilocytic astrocytoma 30.4 BRAF GFAP IDH1
6 astroblastoma 30.3 GFAP SYP
7 glioma 30.2 BRAF IDH1 TP53
8 glioblastoma multiforme 30.2 GFAP IDH1 MGMT TP53
9 atypical teratoid rhabdoid tumor 30.2 GFAP SMARCB1 SYP TP53
10 dysembryoplastic neuroepithelial tumor 30.1 GFAP IDH1 SYP
11 ganglioglioma 30.0 BRAF CHGA GFAP SMARCB1 SYP TP53
12 grade iii astrocytoma 30.0 GFAP MGMT TP53
13 melanoma, cutaneous malignant 1 30.0 BRAF MGMT TP53
14 oligodendroglioma 29.8 GFAP IDH1 MGMT SYP TP53
15 giant cell glioblastoma 29.7 BRAF GFAP IDH1 MGMT SYP TP53
16 medulloblastoma 29.3 GFAP IDH1 MGMT SMARCB1 SYP TP53
17 anaplastic pleomorphic xanthoastrocytoma 12.5
18 neurofibromatosis, type i 10.5
19 astrocytoma 10.5
20 subependymal giant cell astrocytoma 10.2 GFAP SYP
21 chondrosarcoma, extraskeletal myxoid 10.2 SMARCB1 SYP
22 papillary tumor of the pineal region 10.2 BRAF SYP
23 myoepithelioma 10.2 GFAP SMARCB1
24 neurilemmoma 10.2 GFAP SMARCB1
25 lung combined type small cell carcinoma 10.2 GFAP SYP
26 syringocystadenoma papilliferum 10.2 BRAF GFAP
27 arteriovenous malformation 10.2
28 epilepsy 10.2
29 clear cell ependymoma 10.2 GFAP SYP
30 chiari malformation 10.2 GFAP SYP
31 melanotic medulloblastoma 10.2 GFAP SMARCB1
32 pineal parenchymal tumor of intermediate differentiation 10.2 IDH1 SYP
33 subependymal glioma 10.2 GFAP SYP
34 pineal gland cancer 10.2 GFAP SYP
35 oligoastrocytoma 10.2 GFAP MGMT
36 extraosseous chondrosarcoma 10.2 SMARCB1 SYP
37 melanotic neuroectodermal tumor 10.2 GFAP SYP
38 nodular medulloblastoma 10.2 GFAP SMARCB1
39 benign ependymoma 10.2 GFAP SYP
40 obstructive hydrocephalus 10.2 GFAP SYP
41 medulloepithelioma 10.2 GFAP SYP
42 anaplastic oligodendroglioma 10.2 GFAP MGMT
43 mixed cell type cancer 10.1 SYP TP53
44 optic nerve neoplasm 10.1 SYP TP53
45 basaloid squamous cell carcinoma 10.1 SYP TP53
46 cerebral primitive neuroectodermal tumor 10.1 SYP TP53
47 necrotizing sialometaplasia 10.1 GFAP TP53
48 juvenile pilocytic astrocytoma 10.1 GFAP TP53
49 nevus of ota 10.1 BRAF TP53
50 pilocytic astrocytoma of cerebellum 10.1 BRAF IDH1

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 SMARCB1 TP53

MGI Mouse Phenotypes related to Pleomorphic Xanthoastrocytoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.8 BRAF CHGA GFAP IDH1 SMARCB1 TP53
2 mortality/aging MP:0010768 9.76 BRAF CHGA GFAP IDH1 MGMT SMARCB1
3 muscle MP:0005369 9.35 BRAF CHGA GFAP SMARCB1 TP53
4 nervous system MP:0003631 9.17 BRAF CHGA GFAP SMARCB1 SYP TP53

Drugs & Therapeutics for Pleomorphic Xanthoastrocytoma

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

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
2
Cyproheptadine Approved Phase 3 129-03-3 2913
3 Dermatologic Agents Phase 3,Phase 1
4 Serotonin Agents Phase 3
5 Anti-Allergic Agents Phase 3
6 Serotonin Antagonists Phase 3
7 Histamine H1 Antagonists Phase 3
8
Histamine Phosphate Phase 3 51-74-1 65513
9 Antipruritics Phase 3
10 Neurotransmitter Agents Phase 3
11 Histamine Antagonists Phase 3
12 Gastrointestinal Agents Phase 3,Not Applicable
13
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
14
Vincristine Approved, Investigational Phase 1, Phase 2,Phase 2 57-22-7, 2068-78-2 5978
15
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
16
Carboplatin Approved Phase 1, Phase 2,Phase 2 41575-94-4 10339178 38904 498142
17
Mebendazole Approved, Vet_approved Phase 1, Phase 2 31431-39-7 4030
18
Dacarbazine Approved, Investigational Phase 1, Phase 2 4342-03-4 5351166
19
Temozolomide Approved, Investigational Phase 1, Phase 2 85622-93-1 5394
20
Irinotecan Approved, Investigational Phase 1, Phase 2 100286-90-6, 97682-44-5 60838
21
Piperazine Approved, Vet_approved Phase 1, Phase 2 110-85-0 4837
22
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
23
Trametinib Approved Phase 2,Phase 1 871700-17-3 11707110
24
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
25 Anthelmintics Phase 1, Phase 2
26 Antineoplastic Agents, Alkylating Phase 1, Phase 2
27 Antiparasitic Agents Phase 1, Phase 2
28 Alkylating Agents Phase 1, Phase 2
29 Antineoplastic Agents, Phytogenic Phase 1, Phase 2,Phase 2
30 Citrate Phase 1, Phase 2
31 topoisomerase I inhibitors Phase 1, Phase 2
32 Anti-Infective Agents Phase 1, Phase 2
33 Angiogenesis Modulating Agents Phase 1, Phase 2
34 Anticonvulsants Phase 1, Phase 2
35 Antimitotic Agents Phase 1, Phase 2,Phase 2
36 Topoisomerase Inhibitors Phase 1, Phase 2
37 Angiogenesis Inhibitors Phase 1, Phase 2
38 Piperazine citrate Phase 1, Phase 2
39 Protein Kinase Inhibitors Phase 2,Phase 1
40
Verteporfin Approved, Investigational Phase 1 129497-78-5
41
Trioxsalen Approved Phase 1 3902-71-4 5585
42
Gemcitabine Approved Phase 1 95058-81-4 60750
43
Lenograstim Approved, Investigational Phase 1 135968-09-1
44 Photosensitizing Agents Phase 1
45 Dihematoporphyrin Ether Phase 1
46 Anesthetics Phase 1
47 Vaccines Phase 1
48 Immunologic Factors Phase 1
49 Antiviral Agents Phase 1
50 Immunosuppressive Agents Phase 1

Interventional clinical trials:


# 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 Phase II Pediatric Study With Dabrafenib in Combination With Trametinib in Patients With HGG and LGG Recruiting NCT02684058 Phase 2 dabrafenib;trametinib;Carboplatin with vincristine
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 SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib
8 A Biospecimen Collection Study in BRAF-V600E Mutated Recurrent Gliomas Recruiting NCT03593993
9 Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors Withdrawn NCT02194452 Not Applicable

Search NIH Clinical Center for Pleomorphic Xanthoastrocytoma

Genetic Tests for Pleomorphic Xanthoastrocytoma

Anatomical Context for Pleomorphic Xanthoastrocytoma

MalaCards organs/tissues related to Pleomorphic Xanthoastrocytoma:

41
Brain, Spinal Cord, Pineal, Cerebellum, Pituitary, Lung, Bone

Publications for Pleomorphic Xanthoastrocytoma

Articles related to Pleomorphic Xanthoastrocytoma:

(show top 50) (show all 266)
# Title Authors Year
1
Anaplastic pleomorphic xanthoastrocytoma with leptomeningeal dissemination responsive to BRAF inhibition and bevacizumab. ( 30255633 )
2019
2
BRAF activating mutations involving the I^3-I+C loop in V600E-negative anaplastic pleomorphic xanthoastrocytoma. ( 29544532 )
2018
3
Peritumoral Edema Affects the Prognosis in Adult Pleomorphic Xanthoastrocytoma: Retrospective Analysis of 25 Patients. ( 29545226 )
2018
4
Clinicopathological and genetic association between epithelioid glioblastoma and pleomorphic xanthoastrocytoma. ( 29532523 )
2018
5
BRAF inhibition with concomitant tumor treating fields for a multiply progressive pleomorphic xanthoastrocytoma. ( 29708404 )
2018
6
Poliovirus Receptor (CD155) Expression in Pediatric Brain Tumors Mediates Oncolysis of Medulloblastoma and Pleomorphic Xanthoastrocytoma. ( 29878245 )
2018
7
Diagnostic accuracy of diffusion weighted imaging for differentiation of supratentorial pilocytic astrocytoma and pleomorphic xanthoastrocytoma. ( 29797290 )
2018
8
Combined Diffuse Astrocytoma and Pleomorphic Xanthoastrocytoma grade III sharing IDH1 R132H mutation. ( 29859360 )
2018
9
MR Imaging Features of Anaplastic Pleomorphic Xanthoastrocytoma Mimicking High-Grade Astrocytoma. ( 29903923 )
2018
10
Grade II Pleomorphic Xanthoastrocytoma; a meta-analysis of data from previously reported 167 cases. ( 29803334 )
2018
11
Impact of WHO 2016 update of brain tumor classification, molecular markers and clinical outcomes in pleomorphic xanthoastrocytoma. ( 29147864 )
2018
12
Intraventricular Anaplastic Pleomorphic Xanthoastrocytoma: Very Rare Localization and Early Recurrence of a Rare Tumor. ( 30042916 )
2018
13
The genetic landscape of anaplastic pleomorphic xanthoastrocytoma. ( 30051528 )
2018
14
Response to BRAF/MEK Inhibition After Progression With BRAF Inhibition in a Patient With Anaplastic Pleomorphic Xanthoastrocytoma. ( 30169370 )
2018
15
Complete Remission of an Extracranially Disseminated Anaplastic Pleomorphic Xanthoastrocytoma With Everolimus: A Case Report and Literature Review. ( 30322731 )
2018
16
Anaplastic Pleomorphic Xanthoastrocytoma Presenting with Musical Hallucination. ( 30534452 )
2018
17
BRAF V600E-mutated central nervous system tumor with divergent morphological feature - Anaplastic pleomorphic xanthoastrocytoma-like and astroblastoma-like. ( 30557911 )
2018
18
Malignant Conversion to Glioblastoma in Neurofibromatosis Type I-associated Pleomorphic Xanthoastrocytoma: Unknown Predictors of Favorable Outcome. ( 30283557 )
2018
19
Pleomorphic Xanthoastrocytoma; Clinicopathological spectrum of An Intriguing neoplasm. ( 29805393 )
2018
20
Pleomorphic xanthoastrocytoma arising from the pituitary stalk. ( 30038125 )
2018
21
Bevacizumab, irinotecan, temozolomide, tyrosine kinase inhibition, and MEK inhibition are effective against pleomorphic xanthoastrocytoma regardless of V600E status. ( 30120661 )
2018
22
A rare clinical presentation: a pleomorphic xanthoastrocytoma presenting with intracerebral haemorrhage and metastasizing vigorously-case report and review of the literature. ( 30182181 )
2018
23
BRAF V600E, TERT, and IDH2 Mutations in Pleomorphic Xanthoastrocytoma: Observations from a Large Case-Series Study. ( 30240866 )
2018
24
Molecular features of pleomorphic xanthoastrocytoma. ( 30496796 )
2018
25
Spinal Pleomorphic Xanthoastrocytoma With a QKI-RAF1 Fusion. ( 30517658 )
2018
26
Cytologic features of pleomorphic xanthoastrocytoma, WHO grade II. A comparative study with glioblastoma. ( 28084690 )
2017
27
Ganglioglioma progression to combined anaplastic ganglioglioma and anaplastic pleomorphic xanthoastrocytoma. Case report and literature review. ( 28939541 )
2017
28
An infratentorial pure pleomorphic xanthoastrocytoma arising from middle cerebellar peduncle: a rare location of an uncommon tumor. ( 29288852 )
2017
29
Recurrent copy number alterations in low-grade and anaplastic pleomorphic xanthoastrocytoma with and without BRAF V600E mutation. ( 28181325 )
2017
30
Parieto-temporal pleomorphic xanthoastrocytoma in a black African child. ( 28484558 )
2017
31
Dabrafenib in BRAFV600-mutated anaplastic pleomorphic xanthoastrocytoma. ( 27781490 )
2017
32
Anaplastic Pleomorphic Xanthoastrocytoma in a Case of Neurofibromatosis Type 1: A Case Report. ( 28571159 )
2017
33
Xenotransplantation of pediatric low grade gliomas confirms the enrichment of<i>BRAF</i>V600E mutation and preservation of<i>CDKN2A</i>deletion in a novel orthotopic xenograft mouse model of progressive pleomorphic xanthoastrocytoma. ( 29152094 )
2017
34
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
35
Primary pleomorphic xanthoastrocytoma of the spinal cord: A case report and review of literature. ( 28761545 )
2017
36
BRAF/MEK double blockade in refractory anaplastic pleomorphic xanthoastrocytoma. ( 28235815 )
2017
37
Sustained Response to Targeted Therapy in a Patient With Disseminated Anaplastic Pleomorphic Xanthoastrocytoma. ( 29200156 )
2017
38
A novel, potentially targetable TMEM106B-BRAF fusion in pleomorphic xanthoastrocytoma. ( 28299358 )
2017
39
Atypical teratoid rhabdoid tumor arising in a pleomorphic xanthoastrocytoma: a rare entity. ( 28502320 )
2017
40
Pleomorphic Xanthoastrocytoma with anaplastic features: a retrospective case series. ( 27476694 )
2016
41
Pleomorphic Xanthoastrocytoma with Anaplastic Features in the Tectal Region in a Young Adult Patient: A Case Report. ( 27521728 )
2016
42
Angiomatous pleomorphic xanthoastrocytoma: a case report and literature review. ( 27506610 )
2016
43
MGMT Promoter Methylation and BRAF V600E Mutations Are Helpful Markers to Discriminate Pleomorphic Xanthoastrocytoma from Giant Cell Glioblastoma. ( 27253461 )
2016
44
BRAF-Mutated Pleomorphic Xanthoastrocytoma of the Spinal Cord with Eventual Anaplastic Transformation. ( 27956254 )
2016
45
Activating NRF1-BRAF and ATG7-RAF1 fusions in anaplastic pleomorphic xanthoastrocytoma without BRAF p.V600E mutation. ( 27624885 )
2016
46
Primary anaplastic pleomorphic xanthoastrocytoma in adults. Case report and review of literature. ( 27639203 )
2016
47
Glioblastoma multiforme versus pleomorphic xanthoastrocytoma with anaplastic features in the pathological diagnosis: a case report. ( 27449352 )
2016
48
Melanosomal melanin pigment in pleomorphic xanthoastrocytoma, evidence for neuronal-glial origin: A case report with review of the literature. ( 27645472 )
2016
49
Pleomorphic xanthoastrocytoma with anaplastic features: A rare case report and review of literature with reference to current management. ( 27366280 )
2016
50
Pleomorphic xanthoastrocytoma arising from the suprasellar region: A report of two cases. ( 27452134 )
2016

Variations for Pleomorphic Xanthoastrocytoma

ClinVar genetic disease variations for Pleomorphic Xanthoastrocytoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 683 genes:AUTS2; BRAF; CAMK2B; 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
# 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

Pathways related to Pleomorphic Xanthoastrocytoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.84 BRAF MGMT TP53

GO Terms for Pleomorphic Xanthoastrocytoma

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

# Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 8.8 BRAF GFAP TUBB

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

# Name GO ID Score Top Affiliating Genes
1 long-term synaptic potentiation GO:0060291 8.96 BRAF GFAP
2 cellular response to ionizing radiation GO:0071479 8.62 MGMT TP53

Molecular functions related to Pleomorphic Xanthoastrocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 BRAF GFAP IDH1 SYP TP53

Sources for Pleomorphic Xanthoastrocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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