Pineoblastoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pineoblastoma | |
| fr | Pinéoblastome | |
| de | Pineoblastom | |
| es | Pineoblastoma | |
| it | Pineoblastoma | |
| nl | Pineoblastoom | Pinealoblastoom |
| pt | Pineoblastoma | |
| pl | Szyszyniak zarodkowy | |
| cs | Pineoblastom | |
| uk | Пінеобластома | |
| zh | 松果体母细胞瘤 | |
| tr | Pineoblastom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C75.3 | NTBT | index | validated |
| ICD-11 | 2A00.20 | NTBT | index | validated |
| ICD-11 | XH1ZH1 | E | specific | validated |
| MONDO | 0016722 | E | validated | |
| UMLS | C0205898 | E | validated | |
| GARD | 9369 | E | validated | |
| MedDRA | 10050487 | 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:251905Pineal tumor of neuroepithelial tissue
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 | 0.02 / 100 000 | Europe | Value and class | Validated | 22033323[PMID]_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
19 annotations · validated 2016-10-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0010799 | Pinealoma | |
| Very frequent (99-80%) | ||
| HP:0002315 | Headache | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0100543 | Cognitive impairment | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0002354 | Memory impairment | |
| HP:0002344 | Progressive neurologic deterioration | |
| Occasional (29-5%) | ||
| HP:0100576 | Amaurosis fugax | |
| HP:0000619 | Impaired convergence | |
| HP:0007045 | Midline brain calcifications | |
| HP:0001085 | Papilledema | |
| HP:0003470 | Paralysis | |
| HP:0007987 | Progressive visual field defects | |
| HP:0007663 | Reduced visual acuity | |
| HP:0009919 | Retinoblastoma | |
| HP:0001250 | Seizure | |
| HP:0000763 | Sensory neuropathy | |
| Very rare (<4-1%) | ||
| HP:0001254 | Lethargy | |
| HP:0004372 | Reduced consciousness | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 12470168[PMID]_6986979[PMID]_21205817[PMID]_21536703[PMID]_21717450[PMID]_23876864[PMID]_2676297[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251909
- This record as JSON: /data/d/251909.json