Craniopharyngioma

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

CTNNB1, BRAF, IGF2, APC, H19, GH1, IL6, POMC, PROP1, POSTN, VEGFA, GHR, MAP2K7, CD274, CXCR4, VTN, UVRAG, TP63, TOP2A, SOCS1, TNF, CLDN1, ACP1, CKAP4, PART1, SOX9, GDE1, CD276, LYPD4, MIR132

CTNNB1, BRAF, IGF2, APC, H19, GH1, IL6, POMC, PROP1, POSTN, VEGFA, GHR, MAP2K7, CD274, CXCR4, VTN, UVRAG, TP63, TOP2A, SOCS1, TNF, CLDN1, ACP1, CKAP4, PART1, SOX9, GDE1, CD276, LYPD4, MIR132, MIR141, MIR150, MIR15A, MIR21, MIR23A, MIR24-2, SRY, CCL2, FSCN1, SMO, ALB, ALCAM, AR, ATM, CA9, CLDN7, ESR1, HIF1A, HSD11B1, IDH1, IGF1R, CXCL8, KDR, LGALS1, EPCAM, MC4R, PGR, POU1F1, PTCH1, RPE65, ACTB, CXCL12, SHH, POTEF

Drugs

Beloranib

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Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Epidemiology

The point prevalence of this tumour is approximately 1/50,000.

Clinical description

The onset of symptoms is normally insidious with most patients at diagnosis having neurological (headaches, visual disturbances) and endocrine (growth retardation, delayed puberty) dysfunction.

Etiology

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).

Diagnostic methods

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.

Differential diagnosis

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.

Prognosis

Overall, the 5 year survival rate is 80%, though this can be associated with marked morbidity (hypothalamic dysfunction, altered neuropsychological profile).