{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T21:32:44Z","timestamp":1740173564621,"version":"3.37.3"},"reference-count":34,"publisher":"Endocrinology Research Centre","issue":"3","license":[{"start":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T00:00:00Z","timestamp":1698883200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.probl-endojournals.ru\/jour\/about\/editorialPolicies#openAccessPolicy"}],"content-domain":{"domain":["www.probl-endojournals.ru"],"crossmark-restriction":true},"short-container-title":["Probl Endokrinol (Mosk)"],"abstract":"<jats:p>In recent years, a large number of studies have been carried out to research molecular genetic abnormalities in ACTH-\u00adsecreting pituitary tumors. This review presents a comprehensive analysis of exome studies results (germline and somatic mutations, chromosomal abnormalities in corticotropinomas which developed as part of hereditary syndromes\u00a0MEN 1, 2, 4, DICER1, Carney complex etc., and isolated tumors, respectively) and transcriptome (specific genes expression profiles in hormonally active and inactive corticotropinomas, regulation of cell cycles and signal pathways). Modern technologies (next-generation sequencing \u2014 NGS) allow us to study the state of the microRNAome, DNA methylome and\u00a0inactive chromatin sites, in particular using RNA sequencing. Thus, a wide range of fundamental studies is shown, the\u00a0results of which allow us to identify and comprehend the key previously known and new pathogenesis mechanisms and\u00a0biomarkers of corticotropinomas. The characteristics of the most promising molecular genetic factors that can be used in clinical practice for screening and earlier diagnosis of hereditary syndromes and isolated corticotropinomas, differential diagnosis of various forms of endogenous hypercorticism, sensitivity to existing and potential therapies and\u00a0personalized outcome determination of Cushing`s disease.<\/jats:p>","DOI":"10.14341\/probl13273","type":"journal-article","created":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T15:09:14Z","timestamp":1721056154000},"page":"23-30","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":0,"title":["Molecular genetic abnormalities in ACTH-secreting pituitary tumors (corticotropinomas): fundamental research and prospects for use in clinical practice"],"prefix":"10.14341","volume":"70","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4353-6705","authenticated-orcid":true,"given":"A. M.","family":"Lapshina","sequence":"first","affiliation":[{"name":"Endocrinology Research Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5458","published-online":{"date-parts":[[2023,11,2]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Verg\u00e8s B, Boureille F, Goudet P, et al. Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. Journal of Clinical Endocrinology and Metabolism. 2002;87(2):457-465. doi: https:\/\/doi.org\/10.1210\/jcem.87.2.8145","DOI":"10.1210\/jcem.87.2.8145"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Asa SL, Mete O, Perry A, Osamura RY. Overview of the 2022 WHO Classification of Pituitary Tumors. Endocrine Pathology. 2022;33(1):6-26. doi: https:\/\/doi.org\/10.1007\/s12022-022-09703-7","DOI":"10.1007\/s12022-022-09703-7"},{"key":"ref3","doi-asserted-by":"crossref","unstructured":"Naziat A, Karavitaki N, Thakker R, et al. 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