Clinical, neurosurgical and molecular approach to paediatric craniopharyngioma


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A Master's thesis.
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Master (thesis) (master)
Clinical, neurosurgical and molecular approach to paediatric craniopharyngioma
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Université de Lausanne, Faculté de biologie et médecine
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Craniopharyngioma (CP) is a brain tumor originating from Rathke’s pouch remnants which can be located in the sellar, parasellar and suprasellar region. Craniopharyngiomas represent 1.2–4.4% of central nervous system (CNS) tumors and 6–9% of pediatric brain tumors.
Identified peak age ranges are 5-14 and 50-74 years old, 30%–50% being pediatric cases. Possible primary manifestations are high intracranial pressure, visual, growth and endocrine impairment. These symptoms being unspecific, diagnosis is often made late after onset of symptoms. Computer tomography (CT) and magnetic resonance imaging (MRI) are both used for diagnosis and follow-up of CP, since the tumor has its own radiological features. Two histological subtypes can be distinguished, papillary CP (PCP) and adamantinomatous CP (ACP)(6). Recently, molecular research has shown mutations of CTNNB1 gene in ACP, which is part of WNT/β- Catenin pathway, and BRAFV600E mutation in PCP.
Macroscopically, ACP can present cystic and/or solid components, fibrous tissue, necrotic debris and especially in children, calcifications. PCP can be solid or solid and cystic. Contrary to ACP, it rarely presents calcifications. PCP is often less infiltrative than ACP and often doesn’t show invasive behavior.
The main treatment axes are surgery and radiation therapy. Nevertheless, as of today, the management of CP represents a big challenge for the different medical actors involved, due to the important risk of sequelae notably endocrinological, metabolic, visual and psychosocial, the most deleterious being hypothalamic obesity (HO), a state of extreme altered energy homeostasis, refractory to many treatments or conventional measures.
Already in 1912, Harvey Cushing said about CP that it was one of the ‘most baffling intracranial tumors’, highlighting its surgical complexity.
Identification of particular radiological or clinical signs at diagnosis could permit to stratify patients in different risk categories, which may improve outcomes for CP patients and prevent sequelae. Moreover, additionally to the ACP and PCP histological distinction, identification of molecular parameters could permit stratification of patients in different risk categories and therefore improve outcome and reduce sequelae. Early diagnosis, prevention of recurrences and treatment adapted to each patient according to his tumor are ways to improve outcome and quality of life. The present study aims to analyze retrospectively clinical, neurosurgical and radiological data, added to molecular analysis of the tumor tissue of 9 CP patients, in order to evaluate the previously described parameters and look for potential indicators for improved management of CP patients.
Craniopharyngioma, CTNNB1, BRAFV600, hypothalamic obesity, wild type craniopharyngioma
Create date
07/09/2020 11:03
Last modification date
09/02/2021 7:26
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