{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T23:38:04Z","timestamp":1767829084074,"version":"3.49.0"},"reference-count":50,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,8,24]],"date-time":"2020-08-24T00:00:00Z","timestamp":1598227200000},"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":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Uterine leiomyomas are the most common benign tumor of the female genital tract. Previous studies have shown that conventional leiomyomas often harbor\u2010specific alterations including rearrangements involving <jats:italic>HMGA2<\/jats:italic>. Cellular leiomyomas are a variant of uterine leiomyoma that are less well\u2010studied from a genomic point of view. Morphologically and immunohistochemically, cellular leiomyomas may be confused with low\u2010grade endometrial stromal neoplasms, a group of tumors which frequently harbor a number of recurrent gene fusions. Ancillary molecular testing may be used to investigate tumors where low\u2010grade endometrial stromal neoplasms enter into the differential diagnosis. At our institution, we identified a uterine cellular leiomyoma harboring a <jats:italic>HMGA2\u2010TRAF3IP2<\/jats:italic> fusion. After a retrospective review 11 additional tumors were identified. All included cases were reviewed and evaluated for immunohistochemical expression of smooth muscle actin, desmin, h\u2010caldesmon, CD10, estrogen receptor, and progesterone receptor. RNA sequencing using the TruSight RNA Fusion Panel was performed on formalin\u2010fixed paraffin\u2010embedded tissue samples. In addition to the index case, two other cases harbored fusions: <jats:italic>HMGA2\u2010NAA11<\/jats:italic> and <jats:italic>TPCN2\u2010YAP1<\/jats:italic>, of which the latter is novel and was confirmed with reverse transcriptase\u2010polymerase chain reaction. In conclusion, a subset of cellular leiomyomas harbor rearrangements involving <jats:italic>HMGA2<\/jats:italic>, suggesting molecular kinship with conventional uterine leiomyomas. In addition, the prevalence of the novel <jats:italic>TPCN2\u2010YAP1<\/jats:italic> gene fusion in cellular leiomyomas requires further study. The fusions reported here, when identified, may be useful when the diagnosis of cellular leiomyoma is in question.<\/jats:p>","DOI":"10.1002\/gcc.22888","type":"journal-article","created":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T11:20:17Z","timestamp":1594984817000},"page":"688-696","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Gene fusions characterize a subset of uterine cellular leiomyomas"],"prefix":"10.1002","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4069-2000","authenticated-orcid":false,"given":"Anjelica","family":"Hodgson","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital and University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Swanson","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount 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