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It rarely manifests as syndrome and very few isolated cases present with germline mutations. Instead, the vast majority of corticotroph tumors are sporadic monoclonal neoplasms. At present, the major recurrent somatic driver mutations are found in the <jats:italic>USP8<\/jats:italic> gene, which encodes for a deubiquitinase that rescues proteins regulating ACTH synthesis. Almost half of functional corticotroph tumors carry somatic <jats:italic>USP8<\/jats:italic> mutations that associate with a distinct transcriptomic and clinical profile. Other genes mutated in a small fraction of corticotroph tumors include the deubiquitinase encoding gene <jats:italic>USP48<\/jats:italic> and the glucocorticoid receptor expressing <jats:italic>NR3C1<\/jats:italic>. Recent reports on somatic <jats:italic>TP53<\/jats:italic> and <jats:italic>ATRX<\/jats:italic> mutations in corticotroph macroadenomas and carcinomas indicate that within specific patient subpopulations they are not as rare as assumed.<\/jats:p>","DOI":"10.1007\/s11102-022-01253-9","type":"journal-article","created":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T09:02:55Z","timestamp":1658221375000},"page":"689-692","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Genetics of Cushing\u2019s disease: from the lab to clinical practice"],"prefix":"10.1007","volume":"25","author":[{"given":"Marily","family":"Theodoropoulou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Reincke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,7,19]]},"reference":[{"key":"1253_CR1","first-page":"138","volume":"50","author":"H Cushing","year":"1932","unstructured":"Cushing H (1932) The basophilic adenomas of the pituitary body and their clinical manifestations (pituitary basophilism) British Medical Journal. 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