An update on the genetic drivers of corticotroph tumorigenesis
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Accepted version
Embargoed until: 2025-06-02
Embargoed until: 2025-06-02
DOI
10.1055/a-2337-2265
Journal
Experimental and Clinical Endocrinology and Diabetes
ISSN
0947-7349
Metadata
Show full item recordAbstract
The genetic landscape of corticotroph tumours of the pituitary gland has dramatically changed over the last 10 years. Somatic changes in USP8 account for the most common genetic defect in corticotrophinomas, especially in females, while variants in TP53 or ATRX are associated to a subset of aggressive tumours. Germline mutations have also been identified in patients with Cushing's disease: some are well-established (MEN1, CDKN1B, DICER1), while others are rare and could represent coincidences. In this review, we summarise the current knowledge on the genetic drivers of corticotroph tumorigenesis, their molecular consequences, and their impact on the clinical presentation and prognosis.
Authors
Hernández Ramírez, LC; Peres-Rivas, L; Theodoropoulou, M; Korbonits, MCollections
- Centre for Endocrinology [560]