ORPHA:251579

Giant cell glioblastoma

Type: Histopathological subtype
Group: Subtype of disorder
Inheritance: Not applicable
Age of onset: Adult
Status: active

This disease is described under Glioblastoma

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Giant cell glioblastoma
fr	Glioblastome à cellules géantes
de	Riesenzell-Glioblastom
es	Glioblastoma de células gigantes
it	Gliobastoma a cellule giganti
nl	Reuscelglioblastoom
pt	Glioblastoma de células gigantes
pl	Glejak wielopostaciowy olbrzymiokomórkowy
cs	Obrovskobuněčný glioblastom
uk	Гігантоклітинна гліобластома
zh	巨细胞胶质母细胞瘤
tr	Dev hücreli glioblastoma

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	C71.9	NTBT	index	validated
ICD-11	2A00.00	NTBT	index	validated
ICD-11	XH8UC5	E	specific	validated
MONDO	0016682	E		validated
UMLS	C0334588	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:250908Rare neoplastic disease

Parents in the classifications (1):

ORPHA:360Glioblastoma
rare neurological diseases; rare neoplastic diseases

No children.

Genes

13 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
IDH1	Biomarker tested in	Assessed	HGNC:5382	ENSG00000138413	147700	2q34	isocitrate dehydrogenase (NADP(+)) 1	18772396[PMID]
MGMT	Biomarker tested in	Assessed	HGNC:7059	ENSG00000170430	156569	10q26.3	O-6-methylguanine-DNA methyltransferase	22380407[PMID]_20556478[PMID]
NFKBIA	Biomarker tested in	Assessed	HGNC:7797	ENSG00000100906	164008	14q13.2	NFKB inhibitor alpha	25215581[PMID]
PPARG	Biomarker tested in	Assessed	HGNC:9236	ENSG00000132170	601487	3p25.2	peroxisome proliferator activated receptor gamma	10851250[PMID]
TP53	Biomarker tested in	Assessed	HGNC:11998	ENSG00000141510	191170	17p13.1	tumor protein p53	17785346[PMID]
LZTR1	Disease-causing somatic mutation(s) in	Assessed	HGNC:6742	ENSG00000099949	600574	22q11.21	leucine zipper like post translational regulator 1	24075187[PMID]_24071842[PMID]
EGFR	Part of a fusion gene in	Assessed	HGNC:3236	ENSG00000146648	131550	7p11.2	epidermal growth factor receptor	24075187[PMID]_24071942[PMID]
FGFR1	Part of a fusion gene in	Assessed	HGNC:3688	ENSG00000077782	136350	8p11.23	fibroblast growth factor receptor 1	22837387[PMID]
FGFR3	Part of a fusion gene in	Assessed	HGNC:3690	ENSG00000068078	134934	4p16.3	fibroblast growth factor receptor 3	22837387[PMID]
ROS1	Part of a fusion gene in	Assessed	HGNC:10261	ENSG00000047936	165020	6q22.1	ROS proto-oncogene 1, receptor tyrosine kinase	38845690[PMID]
SEPTIN14	Part of a fusion gene in	Assessed	HGNC:33280	ENSG00000154997	612140	7p11.2	septin 14	24075187[PMID]_24071942[PMID]
TACC1	Part of a fusion gene in	Assessed	HGNC:11522	ENSG00000147526	605301	8p11.22	transforming acidic coiled-coil containing protein 1	22837387[PMID]
TACC3	Part of a fusion gene in	Assessed	HGNC:11524	ENSG00000013810	605303	4p16.3	transforming acidic coiled-coil containing protein 3	22837387[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	<1 / 1 000 000	0.02 / 100 000	Europe	Value and class	Validated	RARECARE surveillance of rare cancers in Europe[OTHER]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/251579
This record as JSON: /data/d/251579.json