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Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.
ORPHA:54595Classification level: Disorder
- Synonym(s): -
- Prevalence: 1-9 / 100 000
- Inheritance: Not applicable
- Age of onset: All ages
- ICD-10: D44.4
- OMIM: -
- UMLS: C0010276
- MeSH: D003397
- GARD: 10486
- MedDRA: 10011318
The point prevalence of this tumour is approximately 1/50,000.
The onset of symptoms is normally insidious with most patients at diagnosis having neurological (headaches, visual disturbances) and endocrine (growth retardation, delayed puberty) dysfunction.
Craniopharyngiomas are thought to arise from epithelial remnants of the craniopharyngeal duct or Rathke's pouch (adamantinomatous type tumours) or from metaplasia of squamous epithelial cell rests that are remnants of the part of the stomadeum that contributed to the buccal mucosa (squamous papillary type tumours).
The neuroradiological diagnosis is mainly based on the three components of the tumour (cystic, solid and calcified) in the characteristic sellar/parasellar location. Definitive diagnosis is made following histological examination of a surgical specimen.
The differential diagnosis includes other tumours occurring in this region (pituitary adenomas), infectious or inflammatory processes (eosinophilic granulomas), vascular malformations (aneurysms) and congenital anomalies (Rathke's cleft cysts).
Management and treatment
If there is no hypothalamic invasion, the current treatment is gross total excision of the tumour. In the presence of hypothalamic invasion, a treatment involves sub-total resection with post-operative radiotherapy. Endocrine disturbances are normally permanent and need careful replacement.
Overall, the 5 year survival rate is 80%, though this can be associated with marked morbidity (hypothalamic dysfunction, altered neuropsychological profile).