{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T16:24:23Z","timestamp":1790871863175,"version":"4.1.0"},"reference-count":53,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2025,2,25]],"date-time":"2025-02-25T00:00:00Z","timestamp":1740441600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>DICER1 syndrome (DICERs) represents a tumor predisposition genetic syndrome, inherited in an autosomal dominant manner. Germline loss-of-function variants of the DICER1 gene lead to impaired processing of microRNA, gene expression, and increased risk of tumorigenesis. Although pleuropulmonary blastoma (PPB) is the hallmark of the syndrome, multiple extrapulmonary malignant and non-malignant conditions have also been described, including multinodular goiter (MNG) and sex-cord stromal tumors. MNG is one of the most common components and is associated with an increased risk of thyroid carcinoma. Sertoli\u2013Leydig cell tumor (SLCT) represents the most prevalent type of sex-cord stromal tumor associated with the syndrome, whereas juvenile granulosa cell tumor (JGCT) is considered to be a very rare phenotype. They both may present with abdominal pain due to mass effect and menstrual irregularities in case of hormone production. Although they exhibit low rates of mortality, recurrence rates highly depend on the grade of malignancy. Herein, we report a novel pathogenic DICER1 variant associated with MNG, bilateral ovarian SLCT, and JGCT in a young Greek patient. Clinicians should be aware of a potential germline DICER1 variant when evaluating MNG in young patients, especially if it coexists with other neoplasms.<\/jats:p>","DOI":"10.3390\/ijms26051990","type":"journal-article","created":{"date-parts":[[2025,2,25]],"date-time":"2025-02-25T07:45:08Z","timestamp":1740469508000},"page":"1990","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel Pathogenic Variant of DICER1 Gene in a Young Greek Patient with 2 Different Sex-Cord Ovarian Tumors and Multinodular Goiter"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9803-7789","authenticated-orcid":false,"given":"Afroditi","family":"Roumpou","sequence":"first","affiliation":[{"name":"Endocrine Unit, Second Propaedeutic Department of Internal Medicine, \u201cAttikon\u201d Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Argyro-Ioanna","family":"Ieronimaki","sequence":"additional","affiliation":[{"name":"Second Department of Pathology, \u201cAttikon\u201d Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3420-1420","authenticated-orcid":false,"given":"Aspasia","family":"Manta","sequence":"additional","affiliation":[{"name":"Endocrine Unit, Second Propaedeutic Department of Internal Medicine, \u201cAttikon\u201d Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7339-8193","authenticated-orcid":false,"given":"Ioannis G.","family":"Panayiotides","sequence":"additional","affiliation":[{"name":"Second Department of Pathology, \u201cAttikon\u201d Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4058-5520","authenticated-orcid":false,"given":"Constantine A.","family":"Stratakis","sequence":"additional","affiliation":[{"name":"Human Genetics & Precision Medicine, Institute for Molecular Biology & Biotechnology (IMBB), Foundation for Research & Technology Hellas (FORTH), 70013 Heraklion, Greece"},{"name":"ASTREA Health: Precision Medicine and Longevity, 11528 Athens, Greece"},{"name":"Medical Genetics, Henry Dunant Hospital, 11526 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0590-1575","authenticated-orcid":false,"given":"Sophia","family":"Kalantaridou","sequence":"additional","affiliation":[{"name":"Third Department of Obstetrics and Gynecology, \u201cAttikon\u201d Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3538-2534","authenticated-orcid":false,"given":"Melpomeni","family":"Peppa","sequence":"additional","affiliation":[{"name":"Endocrine Unit, Second Propaedeutic Department of Internal Medicine, \u201cAttikon\u201d Hospital, School of Medicine, National and Kapodistrian University of Athens, 12462 Athens, Greece"},{"name":"Third Department of Internal Medicine, \u201cSotiria\u201d General Hospital, School of Medicine, National and Kapodistrian University of Athens, 11527 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,2,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/s10689-015-9831-y","article-title":"Ovarian Tumors Related to Intronic Mutations in DICER1: A Report from the International Ovarian and Testicular Stromal Tumor Registry","volume":"15","author":"Schultz","year":"2016","journal-title":"Fam. 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