Why the study?
A small but increasing proportion of pituitary tumours present with genetic defects predisposing to tumour development, requiring guidance on which genetic syndromes to consider across different clinical presentations.
Design
Review of the recent literature
Authors
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Supports targeted genetic testing in syndromic cases; leaves open routine screening in sporadic pituitary tumors.
Molecular genetic testing in a subset of patients with pituitary tumours facilitates early diagnosis and improves long-term outcomes by identifying genetic predispositions.
Coopmans et al. (2022) studied this question.
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