PedAM

Pediatric Disease Annotations & Medicines


	pleomorphic xanthoastrocytoma

Disease ID	921
Disease	pleomorphic xanthoastrocytoma
Definition	A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.
Synonym	[m] pleomorphic xanthoastrocytoma [m]pleomorphic xanthoastrocytoma pleomorphic xantho-astrocytoma pleomorphic xanthoastrocytoma (disorder) pleomorphic xanthoastrocytoma (morphologic abnormality)
Orphanet	ORPHANET:251607
DOID	DOID:4852
UMLS	C0334586
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0017636 \| glioblastoma \| 3 C0085113 \| neurofibromatosis \| 1 C1266177 \| dysembryoplastic neuroepithelial tumor \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:60) 1113 \| CHGA \| DISEASES 3202 \| HOXA5 \| DISEASES 2026 \| ENO2 \| DISEASES 8358 \| HIST1H3B \| DISEASES 968 \| CD68 \| DISEASES 2670 \| GFAP \| DISEASES 3021 \| H3F3B \| DISEASES 5156 \| PDGFRA \| DISEASES 3417 \| IDH1 \| DISEASES 57534 \| MIB1 \| DISEASES 6598 \| SMARCB1 \| DISEASES 6855 \| SYP \| DISEASES 975 \| CD81 \| DISEASES 1616 \| DAXX \| DISEASES 7157 \| TP53 \| DISEASES 1956 \| EGFR \| DISEASES 1030 \| CDKN2B \| DISEASES 26060 \| APPL1 \| DISEASES 673 \| BRAF \| DISEASES 9965 \| FGF19 \| DISEASES 4255 \| MGMT \| DISEASES 5604 \| MAP2K1 \| DISEASES 7015 \| TERT \| DISEASES 947 \| CD34 \| DISEASES 8354 \| HIST1H3I \| DISEASES 10215 \| OLIG2 \| DISEASES 83482 \| SCRT1 \| DISEASES 3418 \| IDH2 \| DISEASES 430 \| ASCL2 \| DISEASES 10608 \| MXD4 \| DISEASES 51337 \| THEM6 \| DISEASES 10533 \| ATG7 \| DISEASES 5265 \| SERPINA1 \| DISEASES 8350 \| HIST1H3A \| DISEASES 6597 \| SMARCA4 \| DISEASES 4763 \| NF1 \| DISEASES 8356 \| HIST1H3J \| DISEASES 8353 \| HIST1H3E \| DISEASES 3020 \| H3F3A \| DISEASES 6280 \| S100A9 \| DISEASES 8357 \| HIST1H3H \| DISEASES 8880 \| FUBP1 \| DISEASES 5728 \| PTEN \| DISEASES 546 \| ATRX \| DISEASES 171023 \| ASXL1 \| DISEASES 8351 \| HIST1H3D \| DISEASES 54880 \| BCOR \| DISEASES 54664 \| TMEM106B \| DISEASES 5609 \| MAP2K7 \| DISEASES 55714 \| TENM3 \| DISEASES 1029 \| CDKN2A \| DISEASES 10178 \| TENM1 \| DISEASES 57670 \| KIAA1549 \| DISEASES 4193 \| MDM2 \| DISEASES 51428 \| DDX41 \| DISEASES 8352 \| HIST1H3C \| DISEASES 8355 \| HIST1H3G \| DISEASES 8968 \| HIST1H3F \| DISEASES 10381 \| TUBB3 \| DISEASES 4782 \| NFIC \| DISEASES
Locus	(Waiting for update.)

Disease ID	921
Disease	pleomorphic xanthoastrocytoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0100843 \| Glioblastoma \| 3 HP:0001067 \| Neurofibromas \| 1 HP:0002170 \| Intracranial hemorrhage \| 1

Disease ID	921
Disease	pleomorphic xanthoastrocytoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C1608408 \| malignant transformation C0334533 \| arteriovenous malformation C0019080 \| hemorrhage
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0019080 \| hemorrhage \| 1 C1608408 \| malignant transformation \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	25346165	673	BRAF	umls:C0334586	BeFree	An institutional cohort of 105 brain tumors (51 dysembryoplastic neuroepithelial tumors (DNTs), 14 subependymal giant cell astrocytomas (SEGAs), 12 glioblastoma with neuronal marker expression (GBM-N), and 28 pleomorphic xanthoastrocytomas (PXAs)) from 100 patients were investigated for the presence of BRAF(V600E) by direct sequencing.	0.002171535	2014	BRAF	7	140753336	A	T,G,C
rs113488022	25752754	1029	CDKN2A	umls:C0334586	BeFree	These tumors showed a markedly better prognosis, with molecularly PXA-like tumors frequently harboring BRAF V600E mutations and 9p21 (CDKN2A) homozygous deletion.	0.000271442	2015	BRAF	7	140753336	A	T,G,C
rs113488022	25885250	673	BRAF	umls:C0334586	BeFree	The BRAF V600E mutation occurs frequently in certain brain tumors such as pleomorphic xanthoastrocytoma, ganglioglioma, and pilocytic astrocytoma, and less frequently in epithelioid and giant cell glioblastoma.	0.002171535	2015	BRAF	7	140753336	A	T,G,C
rs113488022	24857351	673	BRAF	umls:C0334586	BeFree	Although this glioma was difficult to clarify, diagnosis of pleomorphic xanthoastrocytoma with anaplastic feature was suggested based on the association of some pathological feature (eosinophilic granular bodies, reticulin network and diffuse CD34 expression) and the BRAF V600E mutation.	0.002171535	2014	BRAF	7	140753336	A	T,G,C
rs113488022	21479234	673	BRAF	umls:C0334586	BeFree	BRAF V600E mutations are common in pleomorphic xanthoastrocytoma: diagnostic and therapeutic implications.	0.002171535	2011	BRAF	7	140753336	A	T,G,C
rs113488022	24857351	947	CD34	umls:C0334586	BeFree	Although this glioma was difficult to clarify, diagnosis of pleomorphic xanthoastrocytoma with anaplastic feature was suggested based on the association of some pathological feature (eosinophilic granular bodies, reticulin network and diffuse CD34 expression) and the BRAF V600E mutation.	0.000542884	2014	BRAF	7	140753336	A	T,G,C
rs113488022	24894018	673	BRAF	umls:C0334586	BeFree	Epithelioid glioblastoma arising from pleomorphic xanthoastrocytoma with the BRAF V600E mutation.	0.002171535	2014	BRAF	7	140753336	A	T,G,C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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