Pleomorphic xanthoastrocytoma
Synonyms: PXA
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare astrocytoma characterized by GFAP-expressing cells with nuclear/cytoplasmic pleomorphism, xanthomatous changes, and eosinophilic granular bodies surrounded by a reticulin network. Pleomorphic xanthoastrocytoma (PXA) most often has cerebral hemispheres location with meningeal involvement, mainly affects younger individuals and is frequently characterized by early seizure manifestation. Extent of resection and mitotic index are important prognostic factors. PXA commonly exhibits MAPK signaling pathway genes mutations (most frequently <i>BRAFV600E</i>), often combined with <i>CDKN2A/B</i> homozygous deletion, and a specific DNA methylation profile. The tumor corresponds to WHO grade 2 or grade 3, mainly depending on the mitotic index and Ki-67 expression.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pleomorphic xanthoastrocytoma | PXA |
| fr | Xanthoastrocytome pléomorphe | = en |
| de | Xanthoastrozytom, pleomorphes | = en |
| es | Xantoastrocitoma pleomórfico | = en |
| it | Xantoastrocitoma pleomorfo | = en |
| nl | Pleomorf xanthoastrocytoom | PXA · Pleiomorf xanthoastrocytoom |
| pt | Xantoastrocitoma pleomórfico | = en |
| pl | Żółtakogwiaździak pleomorficzny | = en |
| cs | Pleomorfní xanthoastrocytom | = en |
| uk | Плеоморфна ксантоастроцитома | = en |
| zh | 多形性黄色星形细胞瘤 | 多形性黄色星形细胞瘤 |
| tr | Pleomorfik ksantoastrositom | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C71.9 | NTBT | index | validated |
| ICD-11 | 2A00.0Y | NTBT | index | validated |
| ICD-11 | XH99U2 | E | specific | validated |
| MONDO | 0016690 | E | validated | |
| UMLS | C0334586 | E | validated | |
| GARD | 10631 | 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):
Parents in the classifications (1):
- ORPHA:717268Circumscribed astrocytic glioma
rare neurological diseases; rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.01 / 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/251607
- This record as JSON: /data/d/251607.json