Craniopharyngiomas

Presse Med. 2021 Dec;50(4):104078. doi: 10.1016/j.lpm.2021.104078. Epub 2021 Oct 22.

Abstract

Craniopharyngiomas are rare epithelial tumours situated primarily in the sellar/parasellar region, occurring along the path of the craniopharyngeal duct. Whilst classed as histologically benign tumours, their unpredictable growth pattern and proximity to vital structures including the optic chiasm, hypothalamus, and pituitary gland renders them a considerable threat, with significant associated morbidity and increase in mortality. Occurring both in child and adulthood, their clinical manifestations are broad, commonly with symptoms/signs secondary to hypothalamic-pituitary dysfunction, raised intracranial pressure and visual compromise. They have two distinct histological subtypes (adamantinomatous and papillary), with unique patterns of age distribution, and genetic and molecular make-up. With increasing understanding of their genetic pathogenesis including BRAF V600E mutations in the papillary subtype, and β-catenin mutations in the adamantinomatous, further research provides hope for the discovery of targeted medical therapy that can exploit molecular changes occurring as a result of such alterations. Until then, primary treatment consists of surgery with or without radiotherapy, with intracystic aspiration, chemotherapy or irradiation being alternative options in selected patients. Long term management by an experienced multidisciplinary team is essential, given the breadth of complications, including hypothalamic morbidity, visual compromise, cognitive and neuropsychological sequelae and impairment to quality of life.

Publication types

  • Review

MeSH terms

  • Adult
  • Age Distribution
  • Child
  • Craniopharyngioma* / complications
  • Craniopharyngioma* / genetics
  • Craniopharyngioma* / pathology
  • Craniopharyngioma* / therapy
  • Diagnostic Imaging
  • Humans
  • Mortality
  • Mutation
  • Neoplasm Grading
  • Pituitary Neoplasms* / complications
  • Pituitary Neoplasms* / genetics
  • Pituitary Neoplasms* / pathology
  • Pituitary Neoplasms* / therapy
  • Proto-Oncogene Proteins B-raf / genetics
  • Quality of Life
  • beta Catenin / genetics

Substances

  • CTNNB1 protein, human
  • beta Catenin
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf