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DOI: 10.1055/a-2337-2265
An Update on the Genetic Drivers of Corticotroph Tumorigenesis
Funding Information Sociedad Mexicana de Nutrición y Endocrinología — Financial support for research projects Dirección General de Asuntos del Personal Académico, Universidad Nacional Autónoma de México — http://dx.doi.org/10.13039/501100006087; PAPIIT projects TA200322 and TA200524 Universidad Nacional Autónoma de México — http://dx.doi.org/10.13039/501100005739; Coordinación de la Investigación Científica Society for Endocrinology — http://dx.doi.org/10.13039/501100000382; Equipment grant![](https://www.thieme-connect.de/media/eced/EFirst/lookinside/thumbnails/03-2024-0082-endo_10-1055-a-2337-2265-1.jpg)
Abstract
The genetic landscape of corticotroph tumours of the pituitary gland has dramatically changed over the last 10 years. Somatic changes in the USP8 gene account for the most common genetic defect in corticotrophinomas, especially in females, while variants in TP53 or ATRX are associated with a subset of aggressive tumours. Germline defects 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.
Keywords
corticotrophinoma - corticotroph tumour - Cushing’s disease - genetic testing - multiple endocrine neoplasia - pituitary adenoma - next generation sequencing - pituitary neuroendocrine tumour - USP8Publikationsverlauf
Eingereicht: 22. März 2024
Eingereicht: 16. Mai 2024
Angenommen: 03. Juni 2024
Accepted Manuscript online:
03. Juni 2024
Artikel online veröffentlicht:
03. Juli 2024
© 2024. Thieme. All rights reserved.
Georg Thieme Verlag KG
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