Molecular genetic testing in the management of pituitary disease

Eva C. Coopmans, Márta Korbonits*

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

18 Citations (Scopus)


Objective: Most pituitary tumours occur sporadically without a genetically identifiable germline abnormality, a small but increasing proportion present with a genetic defect that predisposes to pituitary tumour development, either isolated (e.g., aryl hydrocarbon receptor-interacting protein, AIP) or as part of a tumour-predisposing syndrome (e.g., multiple endocrine neoplasia (MEN) type 1, Carney complex, McCune-Albright syndrome or pituitary tumour and paraganglioma association). Genetic alterations in sporadic pituitary adenomas may include somatic mutations (e.g., GNAS, USP8). In this review, we take a practical approach: which genetic syndromes should be considered in case of different presentation, such as tumour type, family history, age of onset and additional clinical features of the patient. Design: Review of the recent literature in the field of genetics of pituitary tumours. Results: Genetic testing in the management of pituitary disease is recommended in a significant minority of the cases. Understanding the genetic basis of the disease helps to identify patients and at-risk family members, facilitates early diagnosis and therefore better long-term outcome and opens up new pathways leading to tumorigenesis. Conclusion: We provide a concise overview of the genetics of pituitary tumours and discuss the current challenges and implications of these genetic findings in clinical practice.

Original languageEnglish
Pages (from-to)424-435
Number of pages12
JournalClinical Endocrinology
Issue number4
Publication statusPublished - Oct 2022

Bibliographical note

Eva C. Coopmans was supported by Stichting De Drie Lichten, Stichting Jo Kolk Studiefonds, Erasmus + Program, Bioscientifica Trust Grant, ESE Short-Term Fellowship Grant, FEEL Rolf Gaillard Award and Society for Endocrinology Early Career Grant. Márta Korbonits' work on pituitary adenomas is supported by the Barts Charity.

Publisher Copyright: © 2022 John Wiley & Sons Ltd.


Dive into the research topics of 'Molecular genetic testing in the management of pituitary disease'. Together they form a unique fingerprint.

Cite this