MCID: PLM020
MIFTS: 45

Pleomorphic Xanthoastrocytoma

Categories: Rare diseases, Neuronal diseases, Cancer 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 189924002 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 desmoplastic infantile ganglioglioma and rhabdoid cancer, 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 : 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 208)
# Related Disease Score Top Affiliating Genes
1 desmoplastic infantile ganglioglioma 30.9 GFAP SYP
2 rhabdoid cancer 30.9 SMARCB1 SYP
3 glioma susceptibility 1 30.5 IDH1 TP53
4 grade iii astrocytoma 29.6 GFAP MGMT TP53
5 glioblastoma 29.6 BRAF IDH1 MGMT TP53
6 atypical teratoid rhabdoid tumor 29.5 GFAP SMARCB1 SYP TP53
7 dysembryoplastic neuroepithelial tumor 29.4 GFAP IDH1 MAP2 SYP
8 glioblastoma multiforme 29.2 GFAP IDH1 MGMT TP53
9 oligodendroglioma 28.4 GFAP IDH1 MGMT SYP TP53
10 giant cell glioblastoma 27.9 BRAF GFAP IDH1 MGMT SYP TP53
11 pilocytic astrocytoma 27.8 BRAF GFAP IDH1 MGMT SYP TP53
12 ganglioglioma 27.0 BRAF CHGA GFAP MAP2 SMARCB1 SYP
13 medulloblastoma 26.5 GFAP IDH1 MAP2 MGMT SMARCB1 SYP
14 lung combined type small cell carcinoma 10.7 GFAP SYP
15 syringocystadenoma papilliferum 10.7 BRAF GFAP
16 gangliocytoma 10.7 GFAP SYP
17 pilomyxoid astrocytoma 10.7 GFAP SYP
18 subependymal glioma 10.7 GFAP SYP
19 benign ependymoma 10.7 GFAP SYP
20 astroblastoma 10.7 GFAP SYP
21 pineal gland cancer 10.7 GFAP SYP
22 melanotic neuroectodermal tumor 10.6 GFAP SYP
23 obstructive hydrocephalus 10.6 GFAP SYP
24 medulloepithelioma 10.6 GFAP SYP
25 melanotic medulloblastoma 10.6 GFAP SMARCB1
26 extraosseous chondrosarcoma 10.6 SMARCB1 SYP
27 anaplastic ependymoma 10.6 GFAP SYP
28 nodular medulloblastoma 10.6 GFAP SMARCB1
29 oligoastrocytoma 10.6 GFAP MGMT
30 pineoblastoma 10.6 GFAP SYP
31 anaplastic oligodendroglioma 10.6 GFAP MGMT
32 subependymal giant cell astrocytoma 10.6 GFAP SYP
33 pilocytic astrocytoma of cerebellum 10.5 BRAF IDH1
34 rosette-forming glioneuronal tumor 10.5 MAP2 SYP
35 nevus of ota 10.5 BRAF TP53
36 hyperplastic polyposis syndrome 10.4 BRAF TP53
37 spitz nevus 10.4 BRAF TP53
38 hemimegalencephaly 10.4 GFAP MAP2
39 lip cancer 10.4 BRAF TP53
40 frontal convexity meningioma 10.4 GFAP TP53
41 gliofibroma 10.4 GFAP TP53
42 cerebral convexity meningioma 10.4 GFAP TP53
43 protoplasmic astrocytoma 10.4 GFAP TP53
44 brain ischemia 10.4 GFAP MAP2
45 astrocytoma 10.4
46 mature teratoma 10.4 BRAF TP53
47 spinal cancer 10.3 GFAP TP53
48 neurofibromatosis, type i 10.3
49 neurofibromatosis, type iv, of riccardi 10.3
50 glycogen-rich clear cell breast carcinoma 10.3 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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.5 SMARCB1 TP53 BRAF CHGA GFAP IDH1
2 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 9.5 GFAP IDH1 MAP2 SMARCB1 TP53 BRAF
2 mortality/aging MP:0010768 9.23 IDH1 MAP2 MGMT SMARCB1 TP53 BRAF

Drugs & Therapeutics for Pleomorphic Xanthoastrocytoma

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

(show all 46)
# 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
Histamine Phosphate Phase 3 51-74-1 65513
5 Serotonin Agents Phase 3
6 Serotonin Antagonists Phase 3
7 Gastrointestinal Agents Phase 3,Not Applicable
8 Neurotransmitter Agents Phase 3
9 Histamine Antagonists Phase 3
10 Histamine H1 Antagonists Phase 3
11 Anti-Allergic Agents Phase 3
12 Antipruritics Phase 3
13
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
14
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 498142 38904
15
Dacarbazine Approved, Investigational Phase 1, Phase 2 4342-03-4 5351166
16
Irinotecan Approved, Investigational Phase 1, Phase 2 97682-44-5, 100286-90-6 60838
17
Vincristine Approved, Investigational Phase 1, Phase 2 2068-78-2, 57-22-7 5978
18
Temozolomide Approved, Investigational Phase 1, Phase 2 85622-93-1 5394
19
Piperazine Approved, Vet_approved Phase 1, Phase 2 110-85-0 4837
20
Mebendazole Approved, Vet_approved Phase 1, Phase 2 31431-39-7 4030
21
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
22
Trametinib Approved Phase 2 871700-17-3 11707110
23
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
24
Crizotinib Approved Phase 1, Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
25
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
26 Alkylating Agents Phase 1, Phase 2
27 topoisomerase I inhibitors Phase 1, Phase 2
28 Topoisomerase Inhibitors Phase 1, Phase 2
29 Angiogenesis Inhibitors Phase 1, Phase 2
30 Angiogenesis Modulating Agents Phase 1, Phase 2
31 Anthelmintics Phase 1, Phase 2
32 Piperazine citrate Phase 1, Phase 2
33 Anticonvulsants Phase 1, Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Antiparasitic Agents Phase 1, Phase 2
36 Protein Kinase Inhibitors Phase 2,Phase 1
37 Antimitotic Agents Phase 1, Phase 2
38 Antineoplastic Agents, Alkylating Phase 1, Phase 2
39 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
40 Citrate Nutraceutical Phase 1, Phase 2
41
Verteporfin Approved, Investigational Phase 1 129497-78-5
42
Trioxsalen Approved Phase 1 3902-71-4 5585
43 Dihematoporphyrin Ether Phase 1
44 Photosensitizing Agents Phase 1
45 Anesthetics Phase 1
46 Vaccines 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 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
5 Photodynamic Therapy With Porfimer Sodium in Treating Patients With Refractory Brain Tumors Unknown status NCT00002647 Phase 1 verteporfin
6 Imetelstat Sodium in Treating Young Patients With Refractory or Recurrent Solid Tumors or Lymphoma Completed NCT01273090 Phase 1 imetelstat sodium
7 Phase 1b Study PVSRIPO for Recurrent Malignant Glioma in Children Recruiting NCT03043391 Phase 1
8 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
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, Temporal Lobe, Spinal Cord, Pineal, Cerebellum, Testes, Medulla Oblongata

Publications for Pleomorphic Xanthoastrocytoma

Articles related to Pleomorphic Xanthoastrocytoma:

(show top 50) (show all 253)
# Title Authors Year
1
BRAF activating mutations involving the I^3-I+C loop in V600E-negative anaplastic pleomorphic xanthoastrocytoma. ( 29544532 )
2018
2
Peritumoral Edema Affects the Prognosis in Adult Pleomorphic Xanthoastrocytoma: Retrospective Analysis of 25 Patients. ( 29545226 )
2018
3
Clinicopathological and genetic association between epithelioid glioblastoma and pleomorphic xanthoastrocytoma. ( 29532523 )
2018
4
BRAF inhibition with concomitant tumor treating fields for a multiply progressive pleomorphic xanthoastrocytoma. ( 29708404 )
2018
5
Poliovirus Receptor (CD155) Expression in Pediatric Brain Tumors Mediates Oncolysis of Medulloblastoma and Pleomorphic Xanthoastrocytoma. ( 29878245 )
2018
6
Diagnostic accuracy of diffusion weighted imaging for differentiation of supratentorial pilocytic astrocytoma and pleomorphic xanthoastrocytoma. ( 29797290 )
2018
7
Combined Diffuse Astrocytoma and Pleomorphic Xanthoastrocytoma grade III sharing IDH1 R132H mutation. ( 29859360 )
2018
8
MR Imaging Features of Anaplastic Pleomorphic Xanthoastrocytoma Mimicking High-Grade Astrocytoma. ( 29903923 )
2018
9
Grade II Pleomorphic Xanthoastrocytoma; a meta-analysis of data from previously reported 167 cases. ( 29803334 )
2018
10
Impact of WHO 2016 update of brain tumor classification, molecular markers and clinical outcomes in pleomorphic xanthoastrocytoma. ( 29147864 )
2018
11
Pleomorphic Xanthoastrocytoma; Clinicopathological spectrum of An Intriguing neoplasm. ( 29805393 )
2018
12
Cytologic features of pleomorphic xanthoastrocytoma, WHO grade II. A comparative study with glioblastoma. ( 28084690 )
2017
13
Ganglioglioma progression to combined anaplastic ganglioglioma and anaplastic pleomorphic xanthoastrocytoma. Case report and literature review. ( 28939541 )
2017
14
An infratentorial pure pleomorphic xanthoastrocytoma arising from middle cerebellar peduncle: a rare location of an uncommon tumor. ( 29288852 )
2017
15
Recurrent copy number alterations in low-grade and anaplastic pleomorphic xanthoastrocytoma with and without BRAF V600E mutation. ( 28181325 )
2017
16
Parieto-temporal pleomorphic xanthoastrocytoma in a black African child. ( 28484558 )
2017
17
Dabrafenib in BRAFV600-mutated anaplastic pleomorphic xanthoastrocytoma. ( 27781490 )
2017
18
Anaplastic Pleomorphic Xanthoastrocytoma in a Case of Neurofibromatosis Type 1: A Case Report. ( 28571159 )
2017
19
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
20
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
21
Primary pleomorphic xanthoastrocytoma of the spinal cord: A case report and review of literature. ( 28761545 )
2017
22
BRAF/MEK double blockade in refractory anaplastic pleomorphic xanthoastrocytoma. ( 28235815 )
2017
23
Sustained Response to Targeted Therapy in a Patient With Disseminated Anaplastic Pleomorphic Xanthoastrocytoma. ( 29200156 )
2017
24
A novel, potentially targetable TMEM106B-BRAF fusion in pleomorphic xanthoastrocytoma. ( 28299358 )
2017
25
Atypical teratoid rhabdoid tumor arising in a pleomorphic xanthoastrocytoma: a rare entity. ( 28502320 )
2017
26
Pleomorphic Xanthoastrocytoma with anaplastic features: a retrospective case series. ( 27476694 )
2016
27
Pleomorphic Xanthoastrocytoma with Anaplastic Features in the Tectal Region in a Young Adult Patient: A Case Report. ( 27521728 )
2016
28
Angiomatous pleomorphic xanthoastrocytoma: a case report and literature review. ( 27506610 )
2016
29
MGMT Promoter Methylation and BRAF V600E Mutations Are Helpful Markers to Discriminate Pleomorphic Xanthoastrocytoma from Giant Cell Glioblastoma. ( 27253461 )
2016
30
BRAF-Mutated Pleomorphic Xanthoastrocytoma of the Spinal Cord with Eventual Anaplastic Transformation. ( 27956254 )
2016
31
Activating NRF1-BRAF and ATG7-RAF1 fusions in anaplastic pleomorphic xanthoastrocytoma without BRAF p.V600E mutation. ( 27624885 )
2016
32
Primary anaplastic pleomorphic xanthoastrocytoma in adults. Case report and review of literature. ( 27639203 )
2016
33
Glioblastoma multiforme versus pleomorphic xanthoastrocytoma with anaplastic features in the pathological diagnosis: a case report. ( 27449352 )
2016
34
Melanosomal melanin pigment in pleomorphic xanthoastrocytoma, evidence for neuronal-glial origin: A case report with review of the literature. ( 27645472 )
2016
35
Pleomorphic xanthoastrocytoma with anaplastic features: A rare case report and review of literature with reference to current management. ( 27366280 )
2016
36
Pleomorphic xanthoastrocytoma arising from the suprasellar region: A report of two cases. ( 27452134 )
2016
37
Pediatric Pleomorphic Xanthoastrocytoma Treated With Surgical Resection Alone: Clinicopathologic Features. ( 27123665 )
2016
38
Perioperative Outcomes in Intracranial Pleomorphic Xanthoastrocytoma. ( 27183324 )
2016
39
Combined pleomorphic xanthoastrocytoma-ganglioglioma with BRAF V600E mutation: case report. ( 27015517 )
2016
40
Cerebellar pleomorphic xanthoastrocytoma in a patient with neurofibromatosis type 1: a case report and literature review. ( 26261671 )
2015
41
Spinal pleomorphic xanthoastrocytoma companied with periventricular tumor. ( 25755815 )
2015
42
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
43
BRAF mutation and anaplasia may be predictive factors of progression-free survival in adult pleomorphic xanthoastrocytoma. ( 26454767 )
2015
44
BRAF V600E mutation: A treatable driver mutation in pleomorphic xanthoastrocytoma (PXA). ( 25811650 )
2015
45
Anaplastic pleomorphic xanthoastrocytoma with spinal leptomeningeal spread at the time of diagnosis in an adult. ( 25934112 )
2015
46
Pleomorphic xanthoastrocytoma: report of two cases with unconventional clinical presentations. ( 25034704 )
2014
47
Successful Treatment of a Progressive BRAF V600E-Mutated Anaplastic Pleomorphic Xanthoastrocytoma With Vemurafenib Monotherapy. ( 25092772 )
2014
48
Pleomorphic xanthoastrocytoma of the spinal cord: case report and literature review. ( 24495348 )
2014
49
Pleomorphic xanthoastrocytoma in a case of tuberous sclerosis. ( 25002765 )
2014
50
Pleomorphic xanthoastrocytoma with anaplastic features: a case report. ( 24739844 )
2014

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; 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

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 MAP2

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 9.16 BRAF GFAP
2 cellular response to organic substance GO:0071310 8.96 MAP2 SYP
3 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
Content
Loading form....