{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T04:01:35Z","timestamp":1789099295662,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,10,12]],"date-time":"2022-10-12T00:00:00Z","timestamp":1665532800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Histopathology"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:p>Angiomyofibroblastoma (AMF), a rare benign vulvovaginal mesenchymal tumour, poses a diagnostic challenge due to histologic and immunohistochemical overlap with other vulvar mesenchymal tumours. Recently, <jats:italic>MTG1\u2010CYP2E1<\/jats:italic> fusion transcripts were reported in 5\/5 AMFs; no other genetic alterations have been described to date. Herein, we sought to investigate the frequency of the <jats:italic>MTG1\u2010CYP2E1<\/jats:italic> fusion and the presence of other potential genetic alterations in a cohort of AMFs (<jats:italic>n<\/jats:italic>\u2009=\u20097, patient age range: 28\u201349\u2009years). Tumours demonstrated classic morphologic features including alternating hypo\/hypercellular areas, capillary channels surrounded by epithelioid\/spindled tumour cells, and variable amounts of mature adipose tissue. reverse transcription\u2010polymerase chain reaction (RT\u2010PCR) for <jats:italic>MTG1\u2010CYP2E1<\/jats:italic> fusion, performed in all seven cases, showed the fusion transcript in five of six cases (one case with technical failure). Two tumours, including the one lacking the fusion, were subjected to targeted next\u2010generation sequencing (104 genes) and a sarcoma fusion assay (28 genes); the fusion negative AMF also underwent RNA sequencing. No additional mutations, copy number alterations, or fusion genes were identified with the assays employed. We conclude that the majority of AMFs harbour recurrent <jats:italic>MTG1\u2010CYP2E1<\/jats:italic> fusion transcripts and identification of this fusion may aid in the diagnosis.<\/jats:p>","DOI":"10.1111\/his.14813","type":"journal-article","created":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T06:35:30Z","timestamp":1664519730000},"page":"841-846","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Vulvar angiomyofibroblastoma is molecularly defined by recurrent <scp><i>MTG1\u2010CYP2E1<\/i><\/scp> fusions"],"prefix":"10.1111","volume":"81","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1270-553X","authenticated-orcid":false,"given":"Baris","family":"Boyraz","sequence":"first","affiliation":[{"name":"James Homer Wright Pathology Laboratories, Department of Pathology Massachusetts General Hospital, Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryosuke","family":"Tajiri","sequence":"additional","affiliation":[{"name":"Department of Pathology and Oncology University of Occupational and Environmental Health  Kitakyushu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rofieda R","family":"Alwaqfi","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa  Iowa City LA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud Da Cruz","family":"Paula","sequence":"additional","affiliation":[{"name":"Department of Surgery Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiqi","family":"Ye","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Petur","family":"Nielsen","sequence":"additional","affiliation":[{"name":"James Homer Wright Pathology Laboratories, Department of Pathology Massachusetts General Hospital, Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8568-1591","authenticated-orcid":false,"given":"Yin P","family":"Hung","sequence":"additional","affiliation":[{"name":"James Homer Wright Pathology Laboratories, Department of Pathology Massachusetts General Hospital, Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Oliva","sequence":"additional","affiliation":[{"name":"James Homer Wright Pathology Laboratories, Department of Pathology Massachusetts General Hospital, Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9927-1270","authenticated-orcid":false,"given":"Britta","family":"Weigelt","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masanori","family":"Hisaoka","sequence":"additional","affiliation":[{"name":"Department of Pathology and Oncology University of Occupational and Environmental Health  Kitakyushu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaclyn C","family":"Watkins","sequence":"additional","affiliation":[{"name":"James Homer Wright Pathology Laboratories, Department of Pathology Massachusetts General Hospital, Harvard Medical School  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,10,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semdp.2020.09.003"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2559.2002.01384.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cup.12507"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20483"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2010.170"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13000-017-0607-6"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31825d532d"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.PGP.0000054821.24312.82"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2014.03.020"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2559.1997.d01-556.x"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-021-00886-8"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3729"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-13806-x"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-199204000-00006"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1827.1995.tb03490.x"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(97)90058-7"},{"key":"e_1_2_9_18_1","first-page":"284","article-title":"Angiomyofibroblastoma of the vulva and vagina","volume":"9","author":"Nielsen GP","year":"1996","journal-title":"Mod. 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