{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T05:23:23Z","timestamp":1775539403719,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,4,10]],"date-time":"2021-04-10T00:00:00Z","timestamp":1618012800000},"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":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Biphenotypic sinonasal sarcoma (BSNS) is a rare, low grade spindle cell sarcoma, recently recognized in the WHO classification of head and neck tumors, which is characterized by a dual myogenic and neural differentiation and recurrent gene fusions, often involving <jats:italic>PAX3\u2010MAML3<\/jats:italic>, and less commonly <jats:italic>PAX3<\/jats:italic> fusions with other partners such as <jats:italic>NCOA1<\/jats:italic>, <jats:italic>NCOA2<\/jats:italic>, or <jats:italic>WWTR1<\/jats:italic>. Yet, in about 4% of tumors no gene rearrangements are identified. Herein, we describe a <jats:italic>RREB1\u2010MKL2<\/jats:italic> fusion in a BSNS lesion occurring in a 73\u2010year\u2010old female patient with a right maxillo\u2010ethmoidal angle lesion. The polypoid, moderately cellular tumor with infiltrative submucosal growth was composed of fascicles of relatively bland spindle cells embedded in a loose collagenous matrix. The tumor cells showed moderate amounts of eosinophilic cytoplasm with indistinct borders and uniform, pale, ovoid to slender nuclei. The slowly proliferating neoplastic cells co\u2010expressed smooth muscle actin and S100, and showed focal nuclear positivity for \u00df\u2010catenin, while lacking staining for cytokeratins, desmin, myogenin, caldesmon, glial fibrillary acid protein, and SOX\u201010. Molecular analysis by targeted RNA\u2010based next\u2010generation sequencing identified an in\u2010frame fusion between exon 8 of <jats:italic>RREB1<\/jats:italic> and exon 11 of <jats:italic>MKL2<\/jats:italic>, a genetic event that was reported to be a molecular hallmark of ectomesenchymal chondromyxoid tumor. Gene rearrangements in both genes were independently verified by fluorescence in situ hybridization (FISH). To evaluate its recurrent potential an additional group of 15 fusion negative BSNS were tested for abnormalities in <jats:italic>RREB1<\/jats:italic> and <jats:italic>MKL2<\/jats:italic> genes by FISH, but no additional positive cases were identified.<\/jats:p>","DOI":"10.1002\/gcc.22948","type":"journal-article","created":{"date-parts":[[2021,3,14]],"date-time":"2021-03-14T11:19:04Z","timestamp":1615720744000},"page":"565-570","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["<scp><i>RREB1\u2010MKL2<\/i><\/scp> fusion in a spindle cell sinonasal sarcoma: biphenotypic sinonasal sarcoma or ectomesenchymal chondromyxoid tumor in an unusual site?"],"prefix":"10.1002","volume":"60","author":[{"given":"Gunhild","family":"Mechtersheimer","sequence":"first","affiliation":[{"name":"Institute of Pathology, University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mindaugas","family":"Andrulis","sequence":"additional","affiliation":[{"name":"Institute of Pathology General Hospital  Ludwigshafen am Rhein Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus\u2010Wolfgang","family":"Delank","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Head and Neck Surgery General Hospital  Ludwigshafen am Rhein Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna\u2010Lena","family":"Volckmar","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moritz","family":"von Winterfeld","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1001-103X","authenticated-orcid":false,"given":"Albrecht","family":"Stenzinger","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University Hospital Heidelberg  Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9717-8205","authenticated-orcid":false,"given":"Cristina","family":"R. Antonescu","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,4,10]]},"reference":[{"key":"e_1_2_7_2_1","volume-title":"World Health Organization Classification of Head and Neck Tumours","author":"El\u2010Naggar AK","year":"2017"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e3182426886"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2989"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001238"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/his.13045"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000492"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22295"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001096"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12105-020-01169-5"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22521"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers11091309"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000788"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1245\/ASO.2004.03.006"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anorl.2015.09.003"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-018-2426-x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12105-019-01092-4"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2016.04.009"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001092"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2018.04.087"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.7150\/ijbs.40834"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20090342"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-019-1897-5"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2004.08.003"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.047605"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1910413116"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/his.14080"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-15-3000"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00292-020-00864-y"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.22948","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/gcc.22948","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.22948","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T09:26:42Z","timestamp":1693387602000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.22948"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,10]]},"references-count":28,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/gcc.22948"],"URL":"https:\/\/doi.org\/10.1002\/gcc.22948","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,10]]},"assertion":[{"value":"2020-12-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}