hrp0092fc11.4 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Whole Exome Sequencing in a Familial Case of Adamantinomatous Craniopharyngioma Revealed Two Hits Affecting Wnt-Signaling Pathway

Gorelyshev Alexander , Mazerkina Nadezhda , Vasilyev Evgeny , Petrov Vasily , Ryzhova Marina , Gorelyshev Sergey , Tiulpakov Anatoly

Background: Craniopharyngiomas (CPs) are benign brain tumours that intimately involve pituitary and, often, hypothalamus. Here, primary clinical conundrum is choosing between gross total resection and preserving endocrine functions. Robust predictors of recurrence are much needed, but require a deeper understanding of the molecular basis of CPs. Multiple studies show that CTNNB1 (β-catenin) somatic mutations drive the adamantinomatous subtype ...