{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T12:26:12Z","timestamp":1788956772814,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,7,13]],"date-time":"2025-07-13T00:00:00Z","timestamp":1752364800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Diagnostic Cytopathology"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Thyroblastoma is a rare, aggressive thyroid neoplasm newly classified in the 2022 WHO Classification of Endocrine Tumors. It is characterized by embryonal, multilineage morphology and <jats:italic>DICER1<\/jats:italic> mutations. Fewer than 15 well\u2010characterized cases have been reported, with limited cytological descriptions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>A 19\u2010year\u2010old pregnant woman presented with a rapidly enlarging right thyroid mass. Fine needle aspiration biopsy (FNAB) revealed a highly cellular, triphasic aspirate composed of primitive epithelium arranged in macrofollicular structures, spindled mesenchymal cells within a myxoid matrix, and small round blastemal cells. Immunocytochemistry showed TTF\u20101 and PAX8 positivity in epithelial cells, synaptophysin and SALL4 in blastemal cells, and myogenin in both spindled and blastemal components, supporting a cytological diagnosis of thyroblastoma. She underwent total thyroidectomy and neck dissection during the second trimester. Histology confirmed thyroblastoma with extensive lymph node metastases. Chemotherapy was initiated during pregnancy but discontinued due to neutropenic complications. She delivered a healthy infant and remained disease\u2010free at her 12\u2010month follow\u2010up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Molecular Findings<\/jats:title><jats:p>Next\u2010generation sequencing of tumor DNA revealed two somatic <jats:italic>DICER1<\/jats:italic> mutations: a known hotspot missense mutation, c.5437G&gt;C; p.E1813Q, and a novel splice\u2010site variant, c.734+1G&gt;T, predicted to disrupt normal splicing and protein function. No pathogenic variants were found in germline DNA, supporting a somatic origin.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case expands the cytological and molecular spectrum of thyroblastoma and highlights the value of FNAB in early recognition. Awareness of this rare entity and its diagnostic features is essential to avoid misclassification and ensure timely management. The novel <jats:italic>DICER1<\/jats:italic> splice\u2010site mutation further contributes to the evolving molecular landscape of thyroblastoma.<\/jats:p><\/jats:sec>","DOI":"10.1002\/dc.25504","type":"journal-article","created":{"date-parts":[[2025,7,13]],"date-time":"2025-07-13T17:58:52Z","timestamp":1752429532000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Thyroblastoma in Pregnancy: Expanding the Cytomorphological Spectrum of a Novel <scp><i>DICER1<\/i><\/scp>\u2010Associated Entity, a Case Report and Literature Review"],"prefix":"10.1002","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2981-4724","authenticated-orcid":false,"given":"R.","family":"Razack","sequence":"first","affiliation":[{"name":"Division of Anatomical Pathology, Tygerberg Hospital, National Health Laboratory Service, Faculty of Medicine and Health Sciences Stellenbosch University  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. C.","family":"van Wyk","sequence":"additional","affiliation":[{"name":"Division of Anatomical Pathology, Tygerberg Hospital, National Health Laboratory Service, Faculty of Medicine and Health Sciences Stellenbosch University  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. T.","family":"Schubert","sequence":"additional","affiliation":[{"name":"Division of Anatomical Pathology, Tygerberg Hospital, National Health Laboratory Service, Faculty of Medicine and Health Sciences Stellenbosch University  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Pelletier","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Medicine McGill University  Montreal Quebec Canada"},{"name":"Cancer Axis, Lady Davis Institute, Jewish General Hospital  Montreal Quebec Canada"},{"name":"Faculty of Medicine Universit\u00e9 de Montr\u00e9al  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. D.","family":"Foulkes","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Medicine McGill University  Montreal Quebec Canada"},{"name":"Cancer Axis, Lady Davis Institute, Jewish General Hospital  Montreal Quebec Canada"},{"name":"Cancer Research Program Research Institute of the McGill University Health, Center  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Njovu","sequence":"additional","affiliation":[{"name":"Division of Oncology, Department of Medical Imaging and Clinical Oncology, Tygerberg Hospital, Faculty of Medicine and Health Sciences University of Stellenbosch  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Conradie","sequence":"additional","affiliation":[{"name":"Division of Surgery, Department of Surgical Sciences, Faculty of Medicine and Health Sciences University of Stellenbosch  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Hoosain","sequence":"additional","affiliation":[{"name":"Division of Surgery, Department of Surgical Sciences, Faculty of Medicine and Health Sciences University of Stellenbosch  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,13]]},"reference":[{"key":"e_1_2_11_2_1","volume-title":"WHO Classification of Endocrine and Neuroendocrine Tumours","author":"Agaimy A. 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V.","year":"2022"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2016.0201"},{"issue":"11","key":"e_1_2_11_4_1","first-page":"1","article-title":"A Rare Malignant Thyroid Carcinosarcoma With Aggressive Behavior and DICER1 Gene Mutation: A Case Report With Literature Review","volume":"11","author":"Yang J.","year":"2018","journal-title":"Thyroid Research"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001430"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-020-02853-1"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2022.0060"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12022-023-09750-8"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/dc.25105"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2025.1467631"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAP.0000000000000364"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jasc.2020.04.008"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-019-0319-4"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-021-00935-2"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2022.02.018"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers16020347"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12105-022-01417-w"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23877"},{"key":"e_1_2_11_19_1","unstructured":"\u201cNational Center for Biotechnology Information.ClinVar; Variation ID 2131852: NM_177438.3(DICER1):c.734+1G>A \u201dhttps:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/2131852\/."}],"container-title":["Diagnostic Cytopathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/dc.25504","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T05:00:21Z","timestamp":1756789221000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/dc.25504"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,13]]},"references-count":18,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1002\/dc.25504"],"URL":"https:\/\/doi.org\/10.1002\/dc.25504","archive":["Portico"],"relation":{},"ISSN":["8755-1039","1097-0339"],"issn-type":[{"value":"8755-1039","type":"print"},{"value":"1097-0339","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,13]]},"assertion":[{"value":"2025-06-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}