Pilocytic astrocytoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare astrocytoma characterized by bipolar hair-like projections extending from the neoplastic astrocytes, myxoid areas, eosinophilic granular bodies, and Rosenthal fibers. This WHO grade 1 tumor is most often located in the cerebellum in children, or in the hypothalamus, brain stem, optic chiasma, and brain hemispheres in adults. Depending on the primary location and the growth rate of the tumor, patients may present with signs of increased intracranial pressure or focal neurological signs such as decreased visual acuity, ataxia, and/or nystagmus, among other symptoms. Molecularly, it exhibits alterations in genes of the MAPK signaling pathway, most commonly <i>KIAA1549::BRAF</i> fusion.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pilocytic astrocytoma | |
| fr | Astrocytome pilocytique | |
| de | Astrozytom, pilozytisches | |
| es | Astrocitoma pilocítico | |
| it | Astrocitoma pilocitico | |
| nl | Pilocytair astrocytoom | |
| pt | Astrocitoma pilocítico | |
| pl | Gwiaździak włosowatokomórkowy | |
| cs | Pilocytární astrocytom | |
| uk | Пілоцитарна астроцитома | |
| zh | 纤维状细胞性星形细胞瘤 | |
| tr | Pilositik astrositom |
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 | XH12D2 | E | specific | validated |
| MONDO | 0016691 | E | validated | |
| UMLS | C0334583 | E | validated | |
| GARD | 9808 | 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
Genes
0 direct · 8 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| BRAF | ORPHA:251615Pilomyxoid astrocytoma | Disease-causing somatic mutation(s) in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 22159586[PMID]_21190184[PMID] |
| FGFR1 | ORPHA:251615Pilomyxoid astrocytoma | Disease-causing somatic mutation(s) in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 23817572[PMID] |
| KRAS | ORPHA:251615Pilomyxoid astrocytoma | Disease-causing somatic mutation(s) in | Assessed | HGNC:6407 | ENSG00000133703 | 190070 | 12p12.1 | KRAS proto-oncogene, GTPase | 22159586[PMID]_21424530[PMID]_19373855[PMID] |
| BRAF | ORPHA:251615Pilomyxoid astrocytoma | Part of a fusion gene in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 22159586[PMID]_18974108[PMID] |
| KIAA1549 | ORPHA:251615Pilomyxoid astrocytoma | Part of a fusion gene in | Assessed | HGNC:22219 | ENSG00000122778 | 613344 | 7q34 | KIAA1549 | 22159586[PMID]_18974108[PMID] |
| NTRK2 | ORPHA:251615Pilomyxoid astrocytoma | Part of a fusion gene in | Assessed | HGNC:8032 | ENSG00000148053 | 600456 | 9q21.33 | neurotrophic receptor tyrosine kinase 2 | 23817572[PMID] |
| RAF1 | ORPHA:251615Pilomyxoid astrocytoma | Part of a fusion gene in | Assessed | HGNC:9829 | ENSG00000132155 | 164760 | 3p25.2 | Raf-1 proto-oncogene, serine/threonine kinase | 22159586[PMID]_19363522[PMID] |
| SRGAP3 | ORPHA:251615Pilomyxoid astrocytoma | Part of a fusion gene in | Assessed | HGNC:19744 | ENSG00000196220 | 606525 | 3p25.3 | SLIT-ROBO Rho GTPase activating protein 3 | 22159586[PMID]_19363522[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.36 / 100 000 | United States | Value and class | Validated | Central Brain Tumor OTHERistry of the United States 2010-2014[OTHER]_29117289[PMID] |
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/251612
- This record as JSON: /data/d/251612.json