Craniopharyngioma

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Craniopharyngiomas are epithelial neoplasms that arise above the sella turcica of the skull base. They are usually considered to be embryonic malformations in the suprasellar, infundibulotuberal and third ventricular areas of the brain. Although benign histology is usual, they arise adjutant to critical structures and so visual defects, pan-hypopituitarism, cognitive deficits, personality changes, hyperphagia and morbid obesity are common complications.

Contents

Classification

  1. Adamantinomatous craniopharyngioma (ACP)
    • Occur in both children and adults
    • 90% have mutations in CTNNB1 consistent with hypothesis that mutations in exon 3 of the gene encoding beta-catenin and activation of the WNT pathway is important in ACP[1]
    • Epithelium in cords, lobules and whorls, with palisading peripheral columnar epithelium and loosely arranged epithelium called stellate reticulum.
    • Wet keratin is a hallmark
  2. Papillary craniopharyngioma (PCP)
    • Almost exclusively in adults
    • Associated in >90% with BRAF V600E mutation[2]
    • Well-differentiated monomorphic squamous epithelium covering fibrovascular cores with thin capillary blood vessels and scattered immune cells including macrophages and neutrophils. No wet keratin.

It seems probable that the small number of tumours without the respective key mutations have genetic pathology that has the same effect. The small numbers of tumours with both BRAF V600E and CTNNB1 mutations are phenotypically ACPs.

Epidemiology

Incidence is 0.5-2.0 cases/million/year and approximately 60% are in adults

Treatment

  • Surgical resection
  • Radiotherapy[3][4]
  • Chemotherapy does not work although the activating mutations promise directed therapy

Prognosis

Despite a high nominal cure rate craniopharyngioma is associated with long-term morbidity and mortality, especially in females. There can be recurrence, and endocrine replacement with oestrogens is important in premenopausal females. The other risks are the morbidity associated with hypopituitarism so intensive control of glucose, lipids, blood pressure and weight, as in any other patient with increased risk for cardiovascular disease is required[5].

References