An Update on the Genetic Drivers of Corticotroph Tumorigenesis

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 - USP8

Publication History

Received: 22 March 2024
Received: 16 May 2024

Accepted: 03 June 2024

Accepted Manuscript online:
03 June 2024

Article published online:
03 July 2024

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