{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T02:47:44Z","timestamp":1791427664155,"version":"4.3.3"},"reference-count":39,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,1,2]],"date-time":"2023-01-02T00:00:00Z","timestamp":1672617600000},"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":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Among mesenchymal tumors, <jats:italic>MAML2<\/jats:italic> gene rearrangements have been described in a subset of composite hemangioendothelioma and myxoinflammatory fibroblastic sarcoma (MIFS). However, we have recently encountered <jats:italic>MAML2\u2010<\/jats:italic>related fusions in a group of seven undifferentiated malignant epithelioid neoplasms that do not fit well to any established pathologic entities. The patients included five males and two female, aged 41\u201371\u2009years old (median 65\u2009years). The tumors involved the deep soft tissue of extremities (hip, knee, arm, hand), abdominal wall, and the retroperitoneum. Microscopically, the tumors consisted of solid sheets of atypical epithelioid to histiocytoid cells with abundant cytoplasm. Prominent mitotic activity and necrosis were present in 4 cases. In 3 cases, the cells displayed hyperchromatic nuclei or conspicuous macronucleoli, and were admixed with background histiocytoid cells and a lymphoplasmacytic infiltrate. By immunohistochemistry (IHC), the neoplastic cells had a nonspecific phenotype. On targeted RNA sequencing, <jats:italic>MAML2<\/jats:italic> was the 3\u2032 partner and fused to <jats:italic>YAP1<\/jats:italic> (4 cases), <jats:italic>ARHGAP42<\/jats:italic> (2 cases), and <jats:italic>ENDOD1<\/jats:italic> (1 case). Two cases with <jats:italic>YAP1::MAML2<\/jats:italic> harbored concurrent <jats:italic>RAF<\/jats:italic> kinase fusions (<jats:italic>RBMS3::RAF1<\/jats:italic> and <jats:italic>AGK::BRAF<\/jats:italic>, respectively). In 2 cases with targeted DNA sequencing, mutations in <jats:italic>TP53<\/jats:italic>, <jats:italic>RB1<\/jats:italic> and <jats:italic>PTEN<\/jats:italic> were detected in 1 case, and <jats:italic>PDGFRB<\/jats:italic> mutations, <jats:italic>CCNE1<\/jats:italic> amplifications and <jats:italic>CDKN2A\/2B<\/jats:italic> deletion were detected in another case, which showed strong and diffuse PDGFRB expression by IHC. Of the 4 cases with detailed clinical history (median follow\u2010up period 8\u00a0months), three developed distant metastatic disease (one of which died of disease); one case remained free of disease 3\u2009years following surgical excision. In conclusion, we describe a heterogeneous series of <jats:italic>MAML2<\/jats:italic>\u2010rearranged undifferentiated malignant epithelioid neoplasms, a subset of which may overlap with a recently described MIFS variant with <jats:italic>YAP1::MAML2<\/jats:italic> fusions, further expanding the clinicopathologic spectrum of mesenchymal neoplasms with recurrent <jats:italic>MAML2<\/jats:italic> gene rearrangements.<\/jats:p>","DOI":"10.1002\/gcc.23102","type":"journal-article","created":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T02:38:39Z","timestamp":1667875119000},"page":"191-201","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Malignant undifferentiated epithelioid neoplasms with <scp><i>MAML2<\/i><\/scp> rearrangements: A clinicopathologic study of seven cases demonstrating a heterogenous entity"],"prefix":"10.1002","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1139-2914","authenticated-orcid":false,"given":"Josephine K.","family":"Dermawan","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Memorial Sloan Kettering Cancer Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara E.","family":"DiNapoli","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Memorial Sloan Kettering Cancer Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Purvil","family":"Sukhadia","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Memorial Sloan Kettering Cancer Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerry A.","family":"Mullaney","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Memorial Sloan Kettering Cancer Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Gladdy","sequence":"additional","affiliation":[{"name":"Department of Surgery Sinai Health System  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John H.","family":"Healey","sequence":"additional","affiliation":[{"name":"Department of Surgery Memorial Sloan Kettering Cancer Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abbas","family":"Agaimy","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Erlangen University Hospital, Comprehensive Cancer Center, European Metropolitan Area Erlangen\u2010Nuremberg Friedrich Alexander University of Erlangen\u2010Nuremberg  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arjen H.","family":"Cleven","sequence":"additional","affiliation":[{"name":"Department of Pathology University Medical Center Groningen  Groningen The Netherlands"},{"name":"Department of Pathology Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert J. 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