{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T09:59:02Z","timestamp":1781344742961,"version":"3.54.1"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T00:00:00Z","timestamp":1764720000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T00:00:00Z","timestamp":1764720000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100018935","name":"Universit\u00e4tsklinikum Erlangen","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100018935","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Virchows Arch"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>DI<\/jats:italic>\n                    <jats:italic>CER<\/jats:italic>\n                    <jats:italic>1<\/jats:italic>\n                    gene, essential for microRNA biogenesis and posttranscriptional gene regulation, has been implicated in a variety of benign and malignant neoplasms, particularly within the context of the\n                    <jats:italic>DICER1<\/jats:italic>\n                    -related tumor predisposition syndrome. While\n                    <jats:italic>DICER1<\/jats:italic>\n                    -associated rhabdomyosarcomas (RMS) are predominantly documented in the genitourinary tract, we present the first case of a\n                    <jats:italic>DICER1<\/jats:italic>\n                    -mutated embryonal-like (botryoid-like) RMS of the nasal fossa. A 63-year-old woman without relevant family history presented with nasal obstruction, headaches, and epistaxis and underwent resection of a polypoid sinonasal mass. Histopathological analysis revealed a spindle cell neoplasm with prominent botryoid growth, rhabdomyogenic features, and foci of metaplastic cartilage. Immunohistochemistry demonstrated positivity for desmin, myogenin, and MyoD1, prompting molecular testing that confirmed pathogenic\n                    <jats:italic>DICER1<\/jats:italic>\n                    and\n                    <jats:italic>KRAS<\/jats:italic>\n                    mutations. Germline testing was negative for\n                    <jats:italic>DICER1<\/jats:italic>\n                    alterations, and the\n                    <jats:italic>DICER1<\/jats:italic>\n                    variant was determined to be somatic. The covering respiratory epithelium showed prominent hyperplastic changes, in areas closely mimicking\u00a0biphenotypic sinonasal sarcoma. Targeted RNA sequencing revealed no gene fusions involving\n                    <jats:italic>MAML3<\/jats:italic>\n                    ,\n                    <jats:italic>FOXO1<\/jats:italic>\n                    ,\n                    <jats:italic>PAX3<\/jats:italic>\n                    , or other genes. This case underscores the broad differential diagnosis of spindle cell lesions of the sinonasal tract and highlights the utility of combined morphology, immunohistochemistry, and molecular testing in establishing a diagnosis. Notably, the presence of cartilage foci within a RMS-like neoplasm represents a strong clue to an underlining\n                    <jats:italic>DICER1<\/jats:italic>\n                    alteration. The rarity of this presentation in the nasal fossa at this age, coupled with its implications for diagnosis, treatment, and familial screening, emphasizes the need for awareness of\u00a0the morphology patterns of\n                    <jats:italic>DICER1<\/jats:italic>\n                    -associated neoplasms across diverse anatomical sites.\n                  <\/jats:p>","DOI":"10.1007\/s00428-025-04358-1","type":"journal-article","created":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T07:01:25Z","timestamp":1764745285000},"page":"1437-1441","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Sinonasal DICER1\u2011mutated embryonal-like (botryoid-like) rhabdomyosarcoma in an adult: report of the first case"],"prefix":"10.1007","volume":"488","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0226-5905","authenticated-orcid":false,"given":"Miguel","family":"Rito","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6092-7057","authenticated-orcid":false,"given":"Sofia","family":"Fernandes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Stoehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abbas","family":"Agaimy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,12,3]]},"reference":[{"key":"4358_CR1","doi-asserted-by":"publisher","first-page":"1939","DOI":"10.1002\/humu.23877","volume":"40","author":"L de Kock","year":"2019","unstructured":"de Kock L, Wu MK, Foulkes WD (2019) Ten years of DICER1 mutations: provenance, distribution, and associated phenotypes. Hum Mutat 40:1939\u20131953","journal-title":"Hum Mutat"},{"issue":"2","key":"4358_CR2","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1053\/j.semdp.2015.09.009","volume":"33","author":"M Johncilla","year":"2016","unstructured":"Johncilla M, Jo VY (2016) Soft tissue tumors of the sinonasal tract. Semin Diagn Pathol. 33(2):81\u201390","journal-title":"Semin Diagn Pathol."},{"key":"4358_CR3","unstructured":"(2020) WHO Classification of Tumours Editorial Board. Soft tissue and bone tumours. In: International Agency for Research on Cancer. https:\/\/tumourclassification.iarc.who.int\/chapters\/33. Accessed 25 Sep 2024"},{"key":"4358_CR4","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1007\/s12105-016-0697-6","volume":"10","author":"LDR Thompson","year":"2016","unstructured":"Thompson LDR, Fanburg-Smith JC (2016) Update on select benign mesenchymal and meningothelial sinonasal tract lesions. Head Neck Pathol 10:95\u2013108","journal-title":"Head Neck Pathol"},{"key":"4358_CR5","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1038\/s41379-019-0366-x","volume":"33","author":"M Warren","year":"2020","unstructured":"Warren M, Hiemenz MC, Schmidt R et al (2020) Expanding the spectrum of DICER1-associated sarcomas. Mod Pathol 33:164\u2013174","journal-title":"Mod Pathol"},{"key":"4358_CR6","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1002\/gcc.22913","volume":"60","author":"M Apellaniz-Ruiz","year":"2021","unstructured":"Apellaniz-Ruiz M, McCluggage WG, Foulkes WD (2021) DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: pathology, molecular genetics, and indications for molecular testing. Genes Chromosomes Cancer 60:217\u2013233","journal-title":"Genes Chromosomes Cancer"},{"key":"4358_CR7","doi-asserted-by":"publisher","first-page":"1558","DOI":"10.1038\/s41379-021-00804-y","volume":"34","author":"FKF Kommoss","year":"2021","unstructured":"Kommoss FKF, Stichel D, Mora J et al (2021) Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup. Mod Pathol 34:1558\u20131569","journal-title":"Mod Pathol"},{"issue":"12","key":"4358_CR8","doi-asserted-by":"publisher","first-page":"1557","DOI":"10.1097\/PAS.0000000000002300","volume":"48","author":"AE Sharma","year":"2024","unstructured":"Sharma AE, Dermawan JK, Chiang S, Wexler LH, Antonescu CR (2024) Botryoid-type Embryonal Rhabdomyosarcoma: A Comprehensive Clinicopathologic and Molecular Appraisal With Cross-comparison to its Conventional-type Counterpart. Am J Surg Pathol. 48(12):1557\u20131567","journal-title":"Am J Surg Pathol."},{"issue":"2","key":"4358_CR9","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1007\/s12105-021-01364-y","volume":"16","author":"R Erber","year":"2022","unstructured":"Erber R, Preidl R, Stoehr R, Haller F, Hartmann A, Kesting M, Agaimy A (2022) DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case. Head Neck Pathol. 16(2):573\u2013580","journal-title":"Head Neck Pathol."},{"key":"4358_CR10","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1097\/PAS.0000000000001976","volume":"47","author":"LM Rooper","year":"2023","unstructured":"Rooper LM, Agaimy A, Gagan J et al (2023) Comprehensive molecular profiling of sinonasal teratocarcinosarcoma highlights recurrent SMARCA4 inactivation and CTNNB1 mutations. Am J Surg Pathol 47:224\u2013233","journal-title":"Am J Surg Pathol"},{"key":"4358_CR11","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1007\/s00428-020-02853-1","volume":"477","author":"A Agaimy","year":"2020","unstructured":"Agaimy A, Witkowski L, Stoehr R et al (2020) Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations\u2014is the term \u201cthyroblastoma\u201d more appropriate? Virchows Arch 477:787\u2013798. https:\/\/doi.org\/10.1007\/s00428-020-02853-1","journal-title":"Virchows Arch"},{"key":"4358_CR12","doi-asserted-by":"publisher","DOI":"10.1155\/2023\/9537832","author":"JN Hatton","year":"2023","unstructured":"Hatton JN, Frone MN, Cox HC et al (2023) Specifications of the ACMG\/AMP variant classification guidelines for germline DICER1 variant curation. Hum Mutat. https:\/\/doi.org\/10.1155\/2023\/9537832","journal-title":"Hum Mutat"}],"container-title":["Virchows Archiv"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00428-025-04358-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00428-025-04358-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00428-025-04358-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T09:54:31Z","timestamp":1781344471000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00428-025-04358-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,3]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["4358"],"URL":"https:\/\/doi.org\/10.1007\/s00428-025-04358-1","relation":{},"ISSN":["0945-6317","1432-2307"],"issn-type":[{"value":"0945-6317","type":"print"},{"value":"1432-2307","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,3]]},"assertion":[{"value":"13 September 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 October 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 November 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 December 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Samples were used in accordance with ethical guidelines for the use of retrospective tissue samples provided by the local ethics committee of the Friedrich-Alexander University Erlangen-Nuremberg (ethics committee statements 24.01.2005 and 18.01.2012).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Written informed consent was obtained from the patient to publish this report.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"AA is Editor-in-Chief of Virchows Archiv. The authors do not have other financial or non-financial conflicts of interest to disclose.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}