{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T17:20:16Z","timestamp":1783444816845,"version":"3.54.6"},"reference-count":17,"publisher":"Bioscientifica","issue":"3","license":[{"start":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T00:00:00Z","timestamp":1771200000000},"content-version":"vor","delay-in-days":1930,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Introduction: With the use of ultrasonography for the evaluation of thyroid and nonthyroid neck diseases, the incidental discovery of previously unsuspected thyroid nodules\/nonpalpable lesions has increased. Intrathyroidal thymus arises due to aberrant thymic migration during embryogenesis. It is thought to be rare, fulfils the classic criteria for diagnosis of an incidentaloma and it can be mistaken for a thyroid nodule. Multinodular goiter is the main endocrine manifestation of DICER1 syndrome, a tumor predisposition syndrome. Careful thyroid examination including ultrasound is thus necessary for DICER1 syndrome patients. Case Report: A 4-year-old prepubertal boy was referred to the pediatric endocrinology department following an earlier diagnosis of pleuropulmonary blastoma (PPB) type III, which is a hallmark component of DICER1 syndrome. The patient underwent surgery followed by chemotherapy. Genetic analysis identified a germline DICER1 pathogenic variant (c.2062C&amp;gt;T, p.R688*) in the child and in 5 relatives. A second somatic DICER1 RNase IIIb hotspot mutation (c.5438A&amp;gt;G, p.E1813G) was identified in DNA extracted from the proband\u2019s PPB. He had no goiter on clinical examination, but a heterogenous, well-delineated, avascular, solid and hypoechogenic lesion with pseudomicrocalcifications was observed in the right lobe (4.1 \u00d7 3.1 \u00d7 2.6 mm), suggestive of thyroid neoplasia. Diagnostic work-up and a 3-year follow-up excluded thyroid neoplasia and confirmed the diagnosis of an intrathyroid benign thymic lesion. Discussion and Conclusion: This case exemplifies that thyroid incidentalomas in DICER1 syndrome patients should be viewed with great suspicion, but that not all thyroid disorders are indeed DICER1-related in these patients.<\/jats:p>","DOI":"10.1159\/000510004","type":"journal-article","created":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T17:00:43Z","timestamp":1604509243000},"page":"257-261","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-17","source":"Crossref","is-referenced-by-count":2,"title":["Intrathyroidal Thymus (Incidentaloma) Mimicking Thyroid Neoplasia in DICER1 Syndrome"],"prefix":"10.1530","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8862-6937","authenticated-orcid":false,"given":"Marek","family":"Niedziela","sequence":"first","affiliation":[{"name":"1Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelly","family":"Sabbaghian","sequence":"additional","affiliation":[{"name":"2Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leanne","family":"de\u00a0Kock","sequence":"additional","affiliation":[{"name":"2Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Qu\u00e9bec, Canada"},{"name":"3Department of Human Genetics, McGill University, Montreal, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William\u00a0D.","family":"Foulkes","sequence":"additional","affiliation":[{"name":"2Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Qu\u00e9bec, Canada"},{"name":"3Department of Human Genetics, McGill University, Montreal, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","published-online":{"date-parts":[[2020,11,4]]},"reference":[{"issue":"2","key":"2026070711511100900_ref1","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/j.beem.2013.08.007","article-title":"Thyroid nodules","volume":"28","author":"Niedziela","year":"2014","journal-title":"Best Pract Res Clin Endocrinol Metab","ISSN":"https:\/\/id.crossref.org\/issn\/1521-690X","issn-type":"print"},{"issue":"4","key":"2026070711511100900_ref2","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1159\/000322441","article-title":"Ectopic intrathyroidal thymus in children: a long-term follow-up study","volume":"75","author":"Segni","year":"2011","journal-title":"Horm Res Paediatr","ISSN":"https:\/\/id.crossref.org\/issn\/1663-2818","issn-type":"print"},{"issue":"2","key":"2026070711511100900_ref3","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1148\/rg.262045213","article-title":"The thymus: 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