{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T19:17:14Z","timestamp":1791919034625,"version":"4.3.4"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T00:00:00Z","timestamp":1699315200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["LY21H160052"],"award-info":[{"award-number":["LY21H160052"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Histopathology"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>Mesenchymal neoplasms involving <jats:italic>TFE3<\/jats:italic> gene fusions are diverse, mainly include alveolar soft part sarcoma (ASPS) that is characterised by <jats:italic>ASPSCR1<\/jats:italic>::<jats:italic>TFE3<\/jats:italic> fusion, and a small subset of perivascular epithelioid cell tumours (PEComas) referred to as <jats:italic>TFE3<\/jats:italic>\u2010rearranged PEComa, that most frequently harbours <jats:italic>SFPQ<\/jats:italic>::<jats:italic>TFE3<\/jats:italic> fusion. Historically, ASPS and <jats:italic>TFE3<\/jats:italic>\u2010rearranged PEComa are considered two distinctive entities despite their known morphological overlap. However, recent studies have suggested a potential histogenetic relationship between them, and several neoplasms that showed morphological features more closely fit PEComa rather than ASPS but harboured <jats:italic>ASPSCR1<\/jats:italic>::<jats:italic>TFE3<\/jats:italic> fusion have been documented. In this study, we report three cases of PEComa with <jats:italic>ASPSCR1<\/jats:italic>::<jats:italic>TFE3<\/jats:italic> fusion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>Clinicopathological features were assessed and partner agnostic targeted next\u2010generation sequencing on clinically validated platforms were performed. The patients are two females and one male with age at presentation ranging from\u00a021 to 51\u2009years. All three tumours were located in the viscera (rectum, kidney and cervix). On a relatively limited follow\u2010up period (range\u2009=\u20099\u201315\u2009months), all patients are alive without evidence of recurrent or metastatic disease. The neoplasms were composed of tight nested architecture of epithelioid clear cells separated by a delicate vascular network, two of which were associated with sheets of plump spindle cells, and none showed significant discohesive tumour morphology. Immunohistochemically, in addition to TFE3 protein, all three neoplasms demonstrated co\u2010expression of melan\u2010A and smooth muscle actin. RNA\u2010sequencing identified <jats:italic>ASPSCR1<\/jats:italic>::<jats:italic>TFE3<\/jats:italic> fusion in all three cases that were confirmed by subsequent fluorescence <jats:italic>in<\/jats:italic>\u2010<jats:italic>situ<\/jats:italic> hybridisation analyses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study expands the molecular genetic spectrum of <jats:italic>TFE3<\/jats:italic>\u2010rearranged PEComa and further indicates its close relationship to ASPS.<\/jats:p><\/jats:sec>","DOI":"10.1111\/his.15087","type":"journal-article","created":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T07:49:22Z","timestamp":1699429762000},"page":"482-491","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["<scp>PEComa<\/scp> with <i>ASPSCR1<\/i>::<i>TFE3<\/i> fusion: expanding the molecular genetic spectrum of <i>TFE3<\/i>\u2010rearranged <scp>PEComa<\/scp> with an emphasis on overlap with alveolar soft part sarcoma"],"prefix":"10.1111","volume":"84","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5971-7303","authenticated-orcid":false,"given":"Ming","family":"Zhao","sequence":"first","affiliation":[{"name":"Ningbo Clinical Pathology Diagnosis Center  Ningbo China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pathology The First People's Hospital of Linping District  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaona","family":"Yin","sequence":"additional","affiliation":[{"name":"Ningbo Clinical Pathology Diagnosis Center  Ningbo China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiayun","family":"Xu","sequence":"additional","affiliation":[{"name":"Ningbo Clinical Pathology Diagnosis Center  Ningbo China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuefang","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pathology, Shanghai Tenth People's Hospital Tenth People's Hospital of Tongji University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pathology Fudan University Shanghai Cancer Center  Shanghai China"},{"name":"Department of Oncology, Institute of Pathology, Shanghai Medical College Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genet.38.072902.092717"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2020-206899"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1204074"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e3181f17ac0"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e31824a8a37"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000389"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000502"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22073"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41379-021-00879-7"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22755"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexmp.2021.104686"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001719"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/his.14706"},{"key":"e_1_2_8_15_1","first-page":"311","article-title":"A review of neoplasms with MITF\/MiT family translocations","volume":"37","author":"Wei S","year":"2022","journal-title":"Histol. 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