{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T17:10:59Z","timestamp":1754154659042,"version":"3.41.2"},"reference-count":23,"publisher":"Endocrinology Research Centre","issue":"3","license":[{"start":{"date-parts":[[2025,7,22]],"date-time":"2025-07-22T00:00:00Z","timestamp":1753142400000},"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>DICER1 syndrome is a rare monogenic disease with autosomal dominant inheritance. DICER1 protein is involved in the regulation of gene expression by microRNAs. Changes in the expression of DICER1 can be associated with various cancers. A\u00a013,8-year-old girl with a history of embryonal rhabdomyosarcoma (ERMS) of uterine cervix and vagina excised at 6 months of age is presented with a thyroid follicular nodular disease (TFND). Molecular genetic examination revealed a heterozygous pathogenic variant p.Arg1003Ter in the DICER1 gene (NM_030621.4). The presented case emphasizes the importance of molecular genetic diagnosis of DICER1 syndrome in a diagnostic algorithm in the management of patients with TFND and history of malignancy. Considering ERMS of genital tract as a probable component of DICER1 syndrome it is necessary to screen for other manifestations of the disease as well.<\/jats:p>","DOI":"10.14341\/probl13501","type":"journal-article","created":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T15:44:15Z","timestamp":1753371855000},"page":"46-50","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":0,"title":["DICER1-syndrome with manifestation of genital embryonal rhabdomyosarcoma in the first year of life: case report"],"prefix":"10.14341","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-3723-8765","authenticated-orcid":true,"given":"I. G.","family":"Sichinava","sequence":"first","affiliation":[{"name":"Pirogov Russian National Research Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4396-1245","authenticated-orcid":true,"given":"E. S.","family":"Demina","sequence":"additional","affiliation":[{"name":"Pirogov Russian National Research Medical University;\r\nRussian Children\u2019s Clinical Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-6659-5600","authenticated-orcid":true,"given":"E. M.","family":"Sharibzhanova","sequence":"additional","affiliation":[{"name":"Russian Children\u2019s Clinical Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-9887-0321","authenticated-orcid":true,"given":"F. K.","family":"Ismailova","sequence":"additional","affiliation":[{"name":"Pirogov Russian National Research Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-9455-830X","authenticated-orcid":true,"given":"A. 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