The germline landscape of pituitary adenomas: established and emerging predisposition genes

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ID: 313375
2026
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Abstract
Pituitary adenomas are increasingly recognised to have a germline genetic component in a subset of patients, particularly those with young-onset disease, familial clustering or syndromic features. The spectrum of germline variants implicated in pituitary tumorigenesis has broadened considerably, with evidence of both established predisposition genes and a growing number of emerging candidate genes. Established germline predisposition genes - namely, MEN1, PRKAR1A, AIP, CDKN1B, GPR101, SDHx and MAX - remain central to our understanding of familial pituitary adenoma predisposition and have defined roles in specific clinical contexts which influence adenoma phenotype, age at presentation, surveillance strategies and family screening. Beyond this, a set of less prevalent variants in other genes - for example, CABLES1, CDH23, PAM, CHEK2 and the mismatch repair (MMR) genes - are emerging as potential contributors, although the pathogenicity and clinical relevance of these genes remain to be fully established. Identifying causative germline variants in people with pituitary adenomas offers the opportunity of personalised care via gene-specific surveillance strategies, prognostication, cascade testing and reproductive planning to the potential benefit of the individual as well as their families. In this review, we provide a clinically-orientated overview of the established and emerging genes implicated in the germline predisposition to pituitary adenomas. We also present a contemporary clinical approach to germline genetic testing in patients with pituitary adenomas.
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openalex_W7161418106 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Edward Mignone, Alexandra Sorvina, David J Torpy, Hamish S. Scott, Sunita M C De Sousa
Journal the journal of clinical endocrinology & metabolism
Year 2026
DOI
10.1210/clinem/dgag195
URL
https://doi.org/10.1210/clinem/dgag195
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