Journal Article

Craniopharyngioma

Warmuth-Metz, Monika, Puget, Stephanie, Martinez-Barbera, Juan-Pedro, Müller, Hermann L., Merchant, Thomas E.

2019

Overview

Craniopharyngiomas are rare malformational tumours of low histological malignancy arising along the craniopharyngeal duct. The two histological subtypes, adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP), differ in genesis and age distribution. ACPs are diagnosed with a bimodal peak of incidence (5–15 years and 45–60 years), whereas PCPs are restricted to adults mainly in the fifth and sixth decades of life. ACPs are driven by somatic mutations in CTNNB1 (encoding β-catenin) that affect β-catenin stability and are predominantly cystic in appearance. PCPs frequently harbour somatic BRAF V600E mutations and are typically solid tumours. Clinical manifestations due to increased intracranial pressure, visual impairment and endocrine deficiencies should prompt imaging investigations, preferentially MRI. Treatment comprises neurosurgery and radiotherapy; intracystic chemotherapy is used in monocystic ACP. Although long-term survival is high, quality of life and neuropsychological function are frequently impaired due to the close anatomical proximity to the optic chiasm, hypothalamus and pituitary gland. Indeed, hypothalamic involvement and treatment-related hypothalamic lesions frequently result in hypothalamic obesity, physical fatigue and psychosocial deficits. Given the rarity of these tumours, efforts to optimize infrastructure and international collaboration should be research priorities. Craniopharyngiomas are rare malformational intracranial tumours that arise along the craniopharyngeal duct. This Primer describes their formation, diagnosis and treatment, distinguishing between the two histological subtypes — adamantinomatous craniopharyngioma and papillary craniopharyngioma.

• Publisher: Nature Publishing Group UK,Nature Publishing Group
• Subject: 692/163/2743/2742/1738 / 692/4028/67/2332 / Age / Age Factors / Bone cancer / Brain cancer / Brain research / Cancer Research / Craniopharyngioma - diagnosis / Craniopharyngioma - epidemiology / Craniopharyngioma - genetics / Cysts / Epidemiology / Headaches / Hospitals / Humans / Hypothalamus / Internal Medicine / Intracranial pressure / Kinases / Magnetic Resonance Imaging - methods / Medical Microbiology / Medical prognosis / Medicine / Medicine & Public Health / Mutation / Neuropsychology / Neurosurgical Procedures - methods / Obesity / Obesity - complications / Obesity - epidemiology / Pediatrics / Pituitary gland / Primer / Quality of life / Quality of Life Research / Radiation therapy / Radiotherapy - methods / Surgery / Tumors / Visual impairment