4.4 Review

Molecular genetic testing in the management of pituitary disease

Journal

CLINICAL ENDOCRINOLOGY
Volume 97, Issue 4, Pages 424-435

Publisher

WILEY
DOI: 10.1111/cen.14706

Keywords

acromegaly; AIP; FIPA; genetic testing; MEN1; pituitary adenomas; prolactinoma

Funding

  1. Stichting De Drie Lichten
  2. Stichting Jo Kolk Studiefonds
  3. Erasmus+Program
  4. Bioscientifica Trust Grant
  5. ESE Short-Term Fellowship Grant
  6. FEEL Rolf Gaillard Award
  7. Society for Endocrinology Early Career Grant
  8. Barts Charity

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This article provides a concise overview of the genetics of pituitary tumors and discusses the current challenges and implications of these genetic findings in clinical practice.
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.

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