{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T13:07:03Z","timestamp":1774098423714,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T00:00:00Z","timestamp":1702339200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Histopathology"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>Nuclear receptor subfamily 1 group D member 1 (<jats:italic>NR1D1<\/jats:italic>)\u2010rearranged soft tissue tumour is a newly described entity with an epithelioid morphology and a potential for aggressive behaviour. Largely due to under\u2010recognition, this tumour type has not yet been widely acknowledged. Herein, we report four additional cases to further expand its clinicopathological and molecular spectrum.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>Four mesenchymal tumours with <jats:italic>NR1D1<\/jats:italic> rearrangement were identified from our consultation files. There were one male and three females with ages ranging from 19 to 47\u2009years (median\u2009=\u200928.5\u2009years). Tumour occurred in the tongue, neck, hip and index finger, respectively. Histologically, two tumours were composed predominantly of epithelioid cells; one tumour had admixed epithelioid\u2010spindle cells and one tumour consisted of monomorphic small round to ovoid cells. By immunohistochemistry, none of the tumours expressed lineage\u2010specific markers. Targeted RNA\u2010sequencing identified <jats:italic>NR1D1<\/jats:italic> fusions in all four tumours, the partner genes being <jats:italic>MAML2<\/jats:italic>, <jats:italic>MAML3<\/jats:italic>, <jats:italic>KMT2A<\/jats:italic> and <jats:italic>NCOA2<\/jats:italic>, respectively. The novel <jats:italic>MAML3<\/jats:italic> and <jats:italic>NCOA2<\/jats:italic> rearrangements were confirmed by fluorescence <jats:italic>in\u2010situ<\/jats:italic> hybridisation analysis. On follow\u2010up (2\u201323\u2009months), one patient experienced local recurrence due to incomplete resection and one patient developed lung metastasis. The other two patients were alive without disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study adds more support for <jats:italic>NR1D1<\/jats:italic>\u2010rearranged soft tissue tumour as an emerging entity. The occurrence of two additional tumours in the head and neck region, description of a small round cell variant and identification of novel <jats:italic>MAML3<\/jats:italic>, <jats:italic>KMT2A<\/jats:italic> and <jats:italic>NCOA2<\/jats:italic> partners further expand its clinicopathological and molecular spectrum. More studies on larger series are necessary to validate the fully malignant potential of <jats:italic>NR1D1<\/jats:italic>\u2010rearranged soft tissue tumour.<\/jats:p><\/jats:sec>","DOI":"10.1111\/his.15111","type":"journal-article","created":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T22:21:22Z","timestamp":1702419682000},"page":"661-670","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<i>NR1D1<\/i>\u2010rearranged soft tissue tumour: A clinicopathological and molecular analysis of four additional cases"],"prefix":"10.1111","volume":"84","author":[{"given":"Tangchen","family":"Yin","sequence":"first","affiliation":[{"name":"Department of Pathology Fudan University Shanghai Cancer Center  Shanghai China"},{"name":"Department of Oncology, Shanghai Medical College Fudan University  Shanghai 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