{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T05:23:24Z","timestamp":1775539404476,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T00:00:00Z","timestamp":1590105600000},"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":[[2020,6]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>Ectomesenchymal chondromyxoid tumour (ECT) is a rare benign intraoral tumour which almost exclusively presents as a small mass of the anterior dorsal tongue. Recently, the <jats:italic>RREB1\u2013MRTFB<\/jats:italic> (previously known as <jats:italic>MKL2<\/jats:italic>) fusion gene has been identified in 90% of ECTs, all located in the tongue, emphasising its genetic distinctiveness. Here, we report two mesenchymal tumours involving the superior mediastinum of adult women with <jats:italic>RREB1\u2013MRTFB<\/jats:italic> fusions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>Both tumours presented as well\u2010circumscribed paravertebral masses that were clinically suspected to be schwannoma. After fragmented resection, recurrence was not observed at 27 and 18\u00a0months. Although tumours were originally unclassifiable, next\u2010generation sequencing detected identical <jats:italic>RREB1<\/jats:italic> (exon 8)<jats:italic>\u2013MRTFB<\/jats:italic> (exon 11) fusion transcripts, which were validated by reverse transcriptase\u2013polymerase chain reaction, Sanger sequencing, and fluorescence <jats:italic>in\u2010situ<\/jats:italic> hybridisation. Both tumours shared hyalinised areas with round cells embedded in a cord or reticular manner. The tumour cells showed mild nuclear atypia of possible degenerative type with very low mitotic activity, and were at least focally positive for S100, glial fibrillary acidic protein, smooth muscle actin and epithelial membrane antigen. Overall, these findings suggest that they may represent previously undescribed extra\u2010glossal ECT involving the mediastinum. However, the histology was not classic for ECT, because that in case 2 was predominated by storiform growth of spindle cells, whereas the tumour in case 1 lacked myxoid change.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We have provided the first evidence that <jats:italic>RREB1\u2013MRTFB<\/jats:italic> fusion is not limited to tumours in the head region, and whether such tumours represent extra\u2010glossal ECTs requires further research.<\/jats:p><\/jats:sec>","DOI":"10.1111\/his.14080","type":"journal-article","created":{"date-parts":[[2020,1,28]],"date-time":"2020-01-28T22:47:34Z","timestamp":1580251654000},"page":"1023-1031","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Mesenchymal tumours with <i>RREB1\u2013MRTFB<\/i> fusion involving the mediastinum: extra\u2010glossal ectomesenchymal chondromyxoid tumours?"],"prefix":"10.1111","volume":"76","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6991-747X","authenticated-orcid":false,"given":"Naohiro","family":"Makise","sequence":"first","affiliation":[{"name":"Department of Pathology Graduate School of Medicine The University of Tokyo Tokyo Japan"},{"name":"Department of Diagnostic Pathology National Cancer Center Hospital Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taisuke","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Pathology National Cancer Center Hospital Tokyo Japan"},{"name":"Division of Molecular Pathology National Cancer Center Research Institute Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery Graduate School of Medicine The University of Tokyo Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuo","family":"Nakagawa","sequence":"additional","affiliation":[{"name":"Department of Thoracic Surgery National Cancer Center Hospital Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eijitsu","family":"Ryo","sequence":"additional","affiliation":[{"name":"Division of Molecular Pathology National Cancer Center Research Institute Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Department of Thoracic Surgery Graduate School of Medicine The University of Tokyo Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Kohsaka","sequence":"additional","affiliation":[{"name":"Division of Cellular Signaling National Cancer Center Research Institute Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Mano","sequence":"additional","affiliation":[{"name":"Division of Cellular Signaling National Cancer Center Research Institute Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Aburatani","sequence":"additional","affiliation":[{"name":"Genome Science Division Research Center for Advanced Science and Technology The University of Tokyo Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3373-0099","authenticated-orcid":false,"given":"Akihiko","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Pathology National Cancer Center Hospital Tokyo Japan"},{"name":"Rare Cancer Center National Cancer Center Hospital Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuo","family":"Ushiku","sequence":"additional","affiliation":[{"name":"Department of Pathology Graduate School of Medicine The University of Tokyo Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,5,22]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"119","volume-title":"WHO classification of head and neck tumours","author":"Bishop JA","year":"2017"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-199505000-00003"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41368-017-0003-9"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.2006.00368.x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjrcr.20150183"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001096"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cas.13968"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22521"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001238"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2989"},{"key":"e_1_2_8_12_1","first-page":"208","volume-title":"WHO classification of tumours of soft tissue and bone","author":"Fletcher CDM","year":"2013"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200309000-00001"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/his.12973"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20819"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22671"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.047605"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2199-5-13"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.20199"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000351224"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20788"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/his.12100"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1080\/00313020902915875"}],"container-title":["Histopathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fhis.14080","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/his.14080","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/his.14080","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/his.14080","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T11:25:53Z","timestamp":1693999553000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/his.14080"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,22]]},"references-count":22,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,6]]}},"alternative-id":["10.1111\/his.14080"],"URL":"https:\/\/doi.org\/10.1111\/his.14080","archive":["Portico"],"relation":{},"ISSN":["0309-0167","1365-2559"],"issn-type":[{"value":"0309-0167","type":"print"},{"value":"1365-2559","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,22]]},"assertion":[{"value":"2019-11-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}