Why the study?
Around 5% of pituitary tumours arise in a familial or syndromic setting, often presenting at a younger age with aggressive behaviour and treatment resistance, requiring guidance on which genetic syndromes to consider based on clinical presentation.
Identifying causative mutations in pituitary tumors enables targeted genetic screening, facilitating earlier diagnosis and improved long-term outcomes for patients and at-risk relatives.
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May inform targeted screening in pituitary tumors; leaves open prospective validation before routine clinical adoption.
Dénes et al. (2021) studied this question.
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