PXA
MCID: PLM020
MIFTS: 40

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 20 58 6 15 70
Pxa 20 58
Pleomorphic Xantho-Astrocytoma 12

Characteristics:

Orphanet epidemiological data:

58
pleomorphic xanthoastrocytoma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4852
NCIt 50 C4323
SNOMED-CT 67 189924002
ICD10 via Orphanet 33 C71.9
UMLS via Orphanet 71 C0334586
Orphanet 58 ORPHA251607
UMLS 70 C0334586

Summaries for Pleomorphic Xanthoastrocytoma

Disease Ontology : 12 A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies.

MalaCards based summary : Pleomorphic Xanthoastrocytoma, also known as pxa, is related to oligoastrocytoma and desmoplastic infantile ganglioglioma, and has symptoms including seizures An important gene associated with Pleomorphic Xanthoastrocytoma is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Neuroscience and Chromatin Regulation / Acetylation. Affiliated tissues include brain, eye and temporal lobe, and related phenotypes are Increased proliferation and behavior/neurological

Wikipedia : 73 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 361)
# Related Disease Score Top Affiliating Genes
1 oligoastrocytoma 30.8 MGMT GFAP
2 desmoplastic infantile ganglioglioma 30.7 SYP GFAP BRAF
3 glioma susceptibility 1 30.6 TP53 IDH1 H3-3A
4 rhabdoid cancer 30.6 TP53 SYP SMARCB1 SERPINA3
5 glioblastoma 30.5 TP53 MGMT IDH1 H3-3A GFAP BRAF
6 papilledema 30.5 TP53 SYP SERPINA3
7 cellular ependymoma 30.5 SYP S100B MGMT GFAP
8 glioma 30.4 TP53 IDH1 H3-3A BRAF
9 benign ependymoma 30.4 SYP KIAA1549 IDH1 GFAP
10 clear cell ependymoma 30.4 SYP IDH1 GFAP
11 high-grade astrocytoma 30.4 TP53 IDH1 ATRX
12 malignant fibrous histiocytoma 30.3 TP53 SERPINA3 S100B
13 anaplastic ependymoma 30.3 SYP S100B GFAP
14 neurofibroma 30.3 TP53 SYP S100B
15 subependymal giant cell astrocytoma 30.3 SYP S100B GFAP CHGA
16 astroblastoma 30.2 SYP IDH1 GFAP BRAF
17 amelanotic melanoma 30.2 SERPINA3 S100B BRAF
18 hydrocephalus 30.1 TP53 SYP SMARCB1 SERPINA3 S100B GFAP
19 tuberous sclerosis 30.1 TP53 SYP S100B GFAP CHGA
20 adenoma 30.0 TP53 SYP MGMT CHGA BRAF
21 high grade glioma 30.0 TP53 MGMT IDH1 H3-3A GFAP BRAF
22 neurofibromatosis, type i 29.9 TP53 S100B KIAA1549 FAM131B
23 oligodendroglioma 29.9 TP53 SYP S100B MGMT IDH1 GFAP
24 pilocytic astrocytoma of cerebellum 29.8 KIAA1549 IDH1 FAM131B BRAF
25 juvenile astrocytoma 29.8 KIAA1549 IDH1 FAM131B BRAF
26 mixed glioma 29.8 TP53 MGMT IDH1 GFAP ATRX
27 melanoma, cutaneous malignant 1 29.7 TP53 MGMT BRAF
28 meningioma, familial 29.7 TP53 SYP SMARCB1 SERPINA3 S100B KIAA1549
29 ganglioglioma 29.6 TP53 SYP SMARCB1 S100B MAP2 H3-3A
30 brain glioma 29.5 TP53 MGMT MAP2 IDH1 GFAP ATRX
31 pilocytic astrocytoma 29.5 TP53 SYP S100B MGMT KIAA1549 IDH1
32 cerebellum cancer 29.4 TP53 SYP KIAA1549 IDH1 GFAP FAM131B
33 dysembryoplastic neuroepithelial tumor 29.3 SYP S100B MAP2 KIAA1549 IDH1 GFAP
34 medulloblastoma 29.2 TP53 SYP SMARCB1 S100B MGMT MAP2
35 juvenile pilocytic astrocytoma 29.2 KIAA1549 IDH1 H3-3B H3-3A
36 atypical teratoid rhabdoid tumor 28.9 TP53 SYP SMARCB1 S100B IDH1 H3-3A
37 anaplastic astrocytoma 28.8 TP53 SERPINA3 MGMT IDH1 H3-3B H3-3A
38 giant cell glioblastoma 28.5 TP53 SYP SERPINA3 MGMT IDH1 H3-3B
39 malignant astrocytoma 28.4 TP53 SERPINA3 S100B MGMT KIAA1549 IDH1
40 gliosarcoma 28.3 TP53 SERPINA3 S100B MGMT IDH1 H3-3A
41 central nervous system cancer 27.7 TP53 SYP SMARCB1 SERPINA3 MGMT KIAA1549
42 diffuse astrocytoma 27.5 TP53 SERPINA3 MGMT MAP2 KIAA1549 IDH1
43 pleomorphic xanthoastrocytoma braf mutant 11.5
44 anaplastic pleomorphic xanthoastrocytoma 11.5
45 neurofibromatosis 10.6
46 rare tumor 10.6
47 glial tumor 10.5
48 intracranial hypertension 10.5
49 low grade glioma 10.4
50 cerebral neuroblastoma 10.4 SYP GFAP

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 behavior/neurological MP:0005386 9.36 ATRX BRAF GFAP H3-3B KIAA1549 MAP2

Drugs & Therapeutics for Pleomorphic Xanthoastrocytoma

Search Clinical Trials , NIH Clinical Center for Pleomorphic Xanthoastrocytoma

Genetic Tests for Pleomorphic Xanthoastrocytoma

Anatomical Context for Pleomorphic Xanthoastrocytoma

MalaCards organs/tissues related to Pleomorphic Xanthoastrocytoma:

40
Brain, Eye, Temporal Lobe, Pineal, Spinal Cord, Cerebellum, Pituitary

Publications for Pleomorphic Xanthoastrocytoma

Articles related to Pleomorphic Xanthoastrocytoma:

(show top 50) (show all 493)
# Title Authors PMID Year
1
[Epithelioid glioblastoma with BRAF V600E mutation: a clinicopathological and molecular study]. 61
33677887 2021
2
Clinical Characteristics of BRAF V600E Gene Mutation in Patients of Epilepsy-Associated Brain Tumor: a Meta-analysis. 61
33791912 2021
3
Atypical Teratoid/Rhabdoid Tumor (AT/RT) With Molecular Features of Pleomorphic Xanthoastrocytoma. 61
33739782 2021
4
Paediatric Gliomas: BRAF and Histone H3 as Biomarkers, Therapy and Perspective of Liquid Biopsies. 61
33557011 2021
5
Phase 1 study of pomalidomide in children with recurrent, refractory, and progressive central nervous system tumors: A Pediatric Brain Tumor Consortium trial. 61
33025730 2021
6
Biology and grading of pleomorphic xanthoastrocytoma-what have we learned about it? 61
32619305 2021
7
A case series of pediatric survivors of anaplastic pleomorphic xanthoastrocytoma. 61
33543147 2021
8
Cerebellar pleomorphic xanthoastrocytoma in the setting of neurofibromatosis type-I: Does it portend a different prognosis? A case report and systematic review. 61
33160715 2021
9
Cerebrospinal Fluid Spread in a Child with Pleomorphic Xanthoastrocytoma: Report with Cytopathologic Evidence. 61
33075575 2021
10
Conditional reprograming culture conditions facilitate growth of lower grade glioma models. 61
33258947 2020
11
Molecular Features and Prognostic Factors of Pleomorphic Xanthoastrocytoma: A Collaborative Investigation of the Tohoku Brain Tumor Study Group. 61
33071274 2020
12
Cerebral pleomorphic xanthoastrocytoma mimicking inflammatory granuloma: Two case reports. 61
33031279 2020
13
Clinical impact of combined epigenetic and molecular analysis of pediatric low-grade gliomas. 61
32242226 2020
14
An anaplastic pleomorphic xanthoastrocytoma with periventricular extension: An autopsy case report and review of the literature. 61
32578272 2020
15
Acquired ATRX Loss and ALT Phenotype Through Tumor Recurrences in a Case of Pleomorphic Xanthoastrocytoma Suggest Their Possible Roles in Tumor Progression. 61
32770176 2020
16
Spinal Pleomorphic Xanthoastrocytoma: Case Report and Literature Review. 61
32442731 2020
17
Association between adjuvant radiation therapy and overall survival in Pleomorphic Xanthoastrocytoma. 61
32599422 2020
18
Exploring DNA Methylation for Prognosis and Analyzing the Tumor Microenvironment in Pleomorphic Xanthoastrocytoma. 61
32594172 2020
19
Subtype and grade-dependent spatial heterogeneity of T-cell infiltration in pediatric glioma. 61
32788236 2020
20
Clinical Relevance of BRAF V600E Mutation Status in Brain Tumors with a Focus on a Novel Management Algorithm. 61
32648041 2020
21
Cerebellar Pleomorphic Xanthoastrocytoma with BRAF V600E Mutation. 61
32348888 2020
22
Pleomorphic xanthoastrocytoma in the posterior fossa: a case report with advanced neuroimaging findings. 61
32120310 2020
23
Uveitis Induced by Biological Agents Used in Cancer Therapy. 61
32546073 2020
24
Secondary INI1-deficient rhabdoid tumors of the central nervous system: analysis of four cases and literature review. 61
31707588 2020
25
Using personalized medicine in gliomas: a genomic approach to diagnosis and overcoming treatment resistance in a case with pleomorphic xanthoastrocytoma. 61
31748891 2020
26
Long-term Efficacy of Single-agent Vemurafenib for Pleomorphic Xanthoastrocytoma. 61
30601402 2020
27
TPM3-NTRK1 fusion in a pleomorphic xanthoastrocytoma presenting with haemorrhage in a child. 61
32169993 2020
28
Ultrastructural evidence for presen—Āe of gap junctions in rare case of pleomorphic xanthoastrocytoma. 61
32148147 2020
29
[Symptomatic epilepsy with Panayiotopoulos-like onset: the importance of neuroimaging]. 61
32043535 2020
30
The efficacy of DNA mismatch repair enzyme immunohistochemistry as a screening test for hypermutated gliomas. 61
32051040 2020
31
Concomitant Idiopathic Intracranial Hypertension, Normal Pressure Hydrocephalus, and Pleomorphic Xanthoastrocytoma: A Case Report and Review of the Literature. 61
32934859 2020
32
Anaplastic Pleomorphic Xanthoastrocytoma: A Case Report and Literature Review. 61
33364820 2020
33
Surgical treatment of low-grade brain tumors associated with epilepsy. 61
32448606 2020
34
Pleomorphic Xanthoastrocytoma of the Pineal Region in a Pediatric Patient With Neurofibromatosis Type 1. 61
32612482 2020
35
Malignant transformation of pleomorphic xanthoastrocytoma and differential diagnosis: case report. 61
31941461 2020
36
Oligodendroglioma showing pleomorphic xanthoastrocytoma-like perivascular microlesion: With IDH1, TERT promoter mutation and 1p/19q codeletion detected in both components. 61
31855307 2020
37
Rare clinical presentations of pleomorphic xanthoastrocytoma with a high proliferative index: Two case reports. 61
32011515 2020
38
Using methylation profiling to diagnose systemic metastases of pleomorphic xanthoastrocytoma. 61
32002518 2020
39
Frameless radiosurgical third ventriculostomy: Technical report. 61
33282458 2020
40
Intradural extramedullary pleomorphic xanthoastrocytoma: A case report. 61
33194301 2020
41
Disseminated anaplastic pleomorphic xanthoastrocytoma with posttreatment fat necrosis during combined BRAF and MEK inhibitors therapy. 61
31502413 2019
42
Molecular Profiling Reclassifies Adult Astroblastoma into Known and Clinically Distinct Tumor Entities with Frequent Mitogen-Activated Protein Kinase Pathway Alterations. 61
31346129 2019
43
Challenges of targeting BRAF V600E mutations in adult primary brain tumor patients: a report of two cases. 61
31818130 2019
44
Dual BRAF/MEK therapy in BRAF V600E-mutated primary brain tumors: a case series showing dramatic clinical and radiographic responses and a reduction in cutaneous toxicity. 61
31675726 2019
45
The infratranstentorial subtemporal approach (ITSTA): a valuable skull base approach to deep-seated non-skull base pathology. 61
31486891 2019
46
Pleomorphic xanthoastrocytoma: a brief review. 61
31535562 2019
47
Spectroscopic measurement of 5-ALA-induced intracellular protoporphyrin IX in pediatric brain tumors. 61
31435824 2019
48
Solitary Extra-axial Intracranial Primary Meningeal Pleomorphic Xanthoastrocytoma: An Extremely Rare Case. 61
31295593 2019
49
Histological and genetic analysis of anaplastic pleomorphic xanthoastrocytoma suspected of malignant progression over a 12-year clinical course. 61
31397529 2019
50
Anaplastic pleomorphic xanthoastrocytoma associated with an H3G34 mutation: a case report with review of literature. 61
31350684 2019

Variations for Pleomorphic Xanthoastrocytoma

ClinVar genetic disease variations for Pleomorphic Xanthoastrocytoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 682 genes TMEM106B-BRAF fusion Deletion Pathogenic 402244 GRCh37: 7:12258147-140494267
GRCh38:
2 TP53 NM_000546.6(TP53):c.844C>T (p.Arg282Trp) SNV Pathogenic 12364 rs28934574 GRCh37: 17:7577094-7577094
GRCh38: 17:7673776-7673776

Copy number variations for Pleomorphic Xanthoastrocytoma from CNVD:

7
# CNVD ID Chromosome 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 deletion Pleomorphic xanthoastrocytoma
4 158799 21 37028079 37104999 Heterozygous deletion Pleomorphic xanthoastrocytoma
5 158888 21 37727512 38987173 Heterozygous deletion Pleomorphic xanthoastrocytoma
6 161080 22 17257787 19792353 Heterozygous deletion 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 12.09 SYP S100B MAP2 GFAP
2 11.66 SMARCB1 MGMT H3-3A ATRX
3 11.38 TP53 MGMT BRAF
4 10.82 SYP S100B MAP2 GFAP

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 Barr body GO:0001740 8.96 H3-3B H3-3A
2 nuclear chromosome GO:0000228 8.92 SMARCB1 H3-3B H3-3A ATRX

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

# Name GO ID Score Top Affiliating Genes
1 nucleosome assembly GO:0006334 9.61 H3-3B H3-3A ATRX
2 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.4 TP53 ATRX
3 pericentric heterochromatin assembly GO:0031508 9.37 H3-3B H3-3A
4 regulation of centromere complex assembly GO:0090230 9.32 H3-3B H3-3A
5 negative regulation of chromosome condensation GO:1902340 9.26 H3-3B H3-3A
6 telomeric heterochromatin assembly GO:0031509 9.16 H3-3B H3-3A
7 DNA replication-independent nucleosome assembly GO:0006336 9.13 H3-3B H3-3A ATRX
8 multicellular organism growth GO:0035264 8.92 TP53 H3-3B H3-3A ATRX

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

# Name GO ID Score Top Affiliating Genes
1 nucleosomal DNA binding GO:0031492 8.8 SMARCB1 H3-3B H3-3A

Sources for Pleomorphic Xanthoastrocytoma

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....