{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T03:01:06Z","timestamp":1788836466047,"version":"build-2803163510"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,7,21]],"date-time":"2022-07-21T00:00:00Z","timestamp":1658361600000},"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":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>RREB1::MRTFB<\/jats:italic> (former <jats:italic>RREB1::MKL2<\/jats:italic>) fusion characterizes ectomesenchymal chondromyxoid tumors (EMCMT) of the tongue. Only five molecularly confirmed extra\u2010glossal EMCMT cases have been reported recently; all occurring at head and neck or mediastinal sites. We herein describe five new cases including the first two extracranial\/extrathoracic cases. The tumors occurred in three male and two female patients with an age ranging from 18 to 61\u2009years (median, 28). Three tumors were located in the head and neck (jaw, parapharyngeal space, and nasopharyngeal wall) and two in the soft tissue (inguinal and presacral). The tumor size ranged from 3.3 to 20\u2009cm (median, 7). Treatment was surgical without adjuvant treatment in all cases. Two cases were disease\u2010free at 5 and 17\u2009months; other cases were lost to follow\u2010up. Histologically, the soft tissue cases shared a predominant fibromyxoid appearance, but with variable cytoarchitectural pattern (cellular perineurioma\u2010like whorls and storiform pattern in one case and large polygonal granular cells embedded within a chondromyxoid stroma in the other). Two tumors (inguinal and parapharyngeal) showed spindled to ovoid and round cells with a moderately to highly cellular nondescript pattern. One sinonasal tumor closely mimicked nasal chondromesenchymal hamartoma (NCMH). Mitotic activity was low (0\u20135 mitoses\/10\u00a0hpfs). Immunohistochemical findings were heterogeneous with variable expression of S100 (2\/5), EMA (2\/3), CD34 (1\/4), desmin (1\/4), and GFAP (1\/3). Targeted RNA sequencing revealed the same <jats:italic>RREB1::MRTFB<\/jats:italic> fusion in all cases, with exon 8 of <jats:italic>RREB1<\/jats:italic> being fused to exon 11 of <jats:italic>MRTFB<\/jats:italic>. This study expands the topographic spectrum of <jats:italic>RREB1::MRTFB<\/jats:italic> fusion\u2010positive mesenchymal neoplasms, highlighting a significant morphological and phenotypic diversity. Overall, <jats:italic>RREB1::MRTFB<\/jats:italic>\u2010rearranged neoplasms seem to fall into two subcategories: tumors with lobulated, chondroid, or myxochondroid epithelioid morphology (Cases 2 and 3) and those with more undifferentiated hypercellular spindle cell phenotype (Cases 1, 4, and 5). Involvement of extracranial\/extrathoracic sites and the NCMH\u2010like pattern are novel. The biology of these likely indolent or benign tumors remains to be verified in the future.<\/jats:p>","DOI":"10.1002\/gcc.23082","type":"journal-article","created":{"date-parts":[[2022,6,28]],"date-time":"2022-06-28T18:52:19Z","timestamp":1656442339000},"page":"5-16","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["<i>RREB1::MRTFB<\/i> fusion\u2010positive extra\u2010glossal mesenchymal neoplasms: A series of five cases expanding their anatomic distribution and highlighting significant morphological and phenotypic diversity"],"prefix":"10.1002","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0445-8161","authenticated-orcid":false,"given":"Abbas","family":"Agaimy","sequence":"first","affiliation":[{"name":"Institute of Pathology Friedrich Alexander University Erlangen\u2010N\u00fcrnberg, University Hospital  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nasir Ud","family":"Din","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Aga Khan University  Karachi Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1139-2914","authenticated-orcid":false,"given":"Josephine K.","family":"Dermawan","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan\u2010Kettering Cancer Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Haller","sequence":"additional","affiliation":[{"name":"Institute of Pathology Friedrich Alexander University Erlangen\u2010N\u00fcrnberg, University Hospital  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Melzer","sequence":"additional","affiliation":[{"name":"Institute of Radiology, Friedrich Alexander University Erlangen\u2010N\u00fcrnberg University Hospital  Erlangen 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