{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T18:22:08Z","timestamp":1769019728201,"version":"3.49.0"},"reference-count":34,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,2,16]],"date-time":"2017-02-16T00:00:00Z","timestamp":1487203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005762","name":"National Taiwan University Hospital","doi-asserted-by":"publisher","award":["NTUH 105\u2010S3041"],"award-info":[{"award-number":["NTUH 105\u2010S3041"]}],"id":[{"id":"10.13039\/501100005762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005866","name":"Far Eastern Memorial Hospital","doi-asserted-by":"publisher","award":["FEMH\u20102016D\u2010037"],"award-info":[{"award-number":["FEMH\u20102016D\u2010037"]}],"id":[{"id":"10.13039\/501100005866","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Histopathology"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">MED<\/jats:styled-content>12<\/jats:italic> exon 2 mutations have been identified in most uterine leiomyomas and mammary fibroepithelial tumours. <jats:italic><jats:styled-content style=\"fixed-case\">MED<\/jats:styled-content>12<\/jats:italic> has not been genotyped in most other gynaecological mesenchymal tumours. The purpose of this study was to determine the prevalence of <jats:italic><jats:styled-content style=\"fixed-case\">MED<\/jats:styled-content>12<\/jats:italic> mutations in uncommon gynaecological mesenchymal tumours.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>Sixty\u2010eight uncommon gynaecological mesenchymal tumours were genotyped for <jats:italic><jats:styled-content style=\"fixed-case\">MED<\/jats:styled-content>12<\/jats:italic> exon 2, including 27 M\u00fcllerian adenosarcomas (including three tentatively diagnosed as \u2018variant adenosarcomas\u2019), six cellular angiofibromas, six aggressive angiomyxomas, five angiomyofibroblastomas, five superficial myofibroblastomas, five atypical polypoid adenomyomas, and 14 endometrial stromal sarcomas. Immunohistochemistry for <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content>10, myogenic markers, hormone receptors, <jats:styled-content style=\"fixed-case\">MDM<\/jats:styled-content>2, and <jats:styled-content style=\"fixed-case\">CDK<\/jats:styled-content>4, and fluorescence <jats:italic>in\u2010situ<\/jats:italic> hybridization (<jats:styled-content style=\"fixed-case\">FISH<\/jats:styled-content>) for <jats:italic><jats:styled-content style=\"fixed-case\">JAZF<\/jats:styled-content>1<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">PHF<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">YWHAE<\/jats:styled-content><\/jats:italic> rearrangement, were performed on selected cases. The three \u2018variant adenosarcomas\u2019 harboured <jats:italic><jats:styled-content style=\"fixed-case\">MED<\/jats:styled-content>12<\/jats:italic> exon 2 mutations (including p.L36R hotspot mutation, recurrent p.L39_A50del, and a novel splice site mutation). Three endometrial stromal sarcomas with <jats:italic><jats:styled-content style=\"fixed-case\">JAZF<\/jats:styled-content>1\u2013<jats:styled-content style=\"fixed-case\">SUZ<\/jats:styled-content>12<\/jats:italic> or <jats:italic><jats:styled-content style=\"fixed-case\">JAZF<\/jats:styled-content>1\u2013<jats:styled-content style=\"fixed-case\">PHF<\/jats:styled-content>1<\/jats:italic> fusion harboured unprecedented mutations (p.D54G in two, and p.Q48* in one). All remaining tumours were wild\u2010type. The three <jats:italic><jats:styled-content style=\"fixed-case\">MED<\/jats:styled-content>12<\/jats:italic>\u2010mutated \u2018variant adenosarcomas\u2019 showed distinctive morphological features, including \u2018fibromyomatous\u2019 cytomorphology, a close association with adenomyosis, clustered thick\u2010walled vessels, focal conspicuous hyalinization, and intralymphovascular tumour growth. Features of conventional adenosarcomas, including nuclear atypia, mitotic activity, periglandular condensation, and phyllodes\u2010like architecture, were inconspicuous. All three cases showed immunoreactivity for desmin and hormone receptors, while being negative for <jats:styled-content style=\"fixed-case\">MDM<\/jats:styled-content>2 and <jats:styled-content style=\"fixed-case\">CDK<\/jats:styled-content>4; they showed no <jats:italic><jats:styled-content style=\"fixed-case\">JAZF<\/jats:styled-content>1<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">PHF<\/jats:styled-content>1<\/jats:italic> or <jats:italic><jats:styled-content style=\"fixed-case\">YWHAE<\/jats:styled-content><\/jats:italic> rearrangement. Despite deep myoinvasion, these tumours followed an indolent clinical course.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These <jats:italic><jats:styled-content style=\"fixed-case\">MED<\/jats:styled-content>12<\/jats:italic>\u2010mutated adenosarcoma\u2010like tumours might represent a distinct entity that requires more studies for its identification. <jats:italic><jats:styled-content style=\"fixed-case\">MED<\/jats:styled-content>12<\/jats:italic> exon 2 mutations seemed to have no significant role in other uncommon gynaecological mesenchymal tumours.<\/jats:p><\/jats:sec>","DOI":"10.1111\/his.13156","type":"journal-article","created":{"date-parts":[[2016,12,21]],"date-time":"2016-12-21T22:35:43Z","timestamp":1482359743000},"page":"954-965","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Comprehensive screening for <i><scp>MED<\/scp>12<\/i> mutations in gynaecological mesenchymal 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