Pediatric craniopharyngioma in association with familial adenomatous polyposis

We report the first case of craniopharyngioma associated with FAP in a pediatric patient. A seven-year-old girl who presented with headache and vomiting was found on magnetic resonance imaging to have a suprasellar mass with cystic extension to the pre-pontine space. The tumor represented an adamantinomatous craniopharyngioma (aCP) with nuclear β-catenin expression. Whole exome sequencing confirmed aCTNNB1 activating point mutation and a germlineAPC frameshift variant. This case represents the first FAP-associated craniopharyngioma in childhood …. expanding our understanding of the molecular underpinnings driving tumorigenesis in this unique patient.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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Source: Biomedizinische Technik/Biomedical Engineering - Category: Biomedical Engineering Tags: Biomed Tech (Berl) Source Type: research
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