{"entity": "publication", "iuid": "6c9f38d63146496e92771cf3dbfbd9e1", "timestamp": "2026-07-15T23:35:33.934Z", "links": {"self": {"href": "https://publications.scilifelab.se/publication/6c9f38d63146496e92771cf3dbfbd9e1.json"}, "display": {"href": "https://publications.scilifelab.se/publication/6c9f38d63146496e92771cf3dbfbd9e1"}}, "title": "Recurrent Fusions Between YAP1 and KMT2A in Morphologically Distinct Neoplasms Within the Spectrum of Low-grade Fibromyxoid Sarcoma and Sclerosing Epithelioid Fibrosarcoma.", "authors": [{"family": "Puls", "given": "Florian", "initials": "F"}, {"family": "Agaimy", "given": "Abbas", "initials": "A"}, {"family": "Flucke", "given": "Uta", "initials": "U"}, {"family": "Mentzel", "given": "Thomas", "initials": "T"}, {"family": "Sumathi", "given": "Vaiyapuri P", "initials": "VP"}, {"family": "Ploegmakers", "given": "Marieke", "initials": "M"}, {"family": "Stoehr", "given": "Robert", "initials": "R"}, {"family": "Kindblom", "given": "Lars-Gunnar", "initials": "LG"}, {"family": "Hansson", "given": "Magnus", "initials": "M"}, {"family": "Sydow", "given": "Saskia", "initials": "S"}, {"family": "Arbajian", "given": "Elsa", "initials": "E"}, {"family": "Mertens", "given": "Fredrik", "initials": "F"}], "type": "journal article", "published": "2020-05-00", "journal": {"title": "Am. J. Surg. Pathol.", "issn": "1532-0979", "volume": "44", "issue": "5", "pages": "594-606", "issn-l": "0147-5185"}, "abstract": "Sclerosing epithelioid fibrosarcoma (SEF) is an aggressive soft tissue sarcoma. In the majority of cases, there is overexpression of MUC4, and most cases show EWSR1-CREB3L1 gene fusions. A subset of SEF displays composite histologic features of SEF and low-grade fibromyxoid sarcoma (LGFMS). These \"hybrid\" tumors are more likely to harbor the FUS-CREB3L2 fusion, which is also seen in most LGFMS. We, here, characterize a series of 8 soft tissue neoplasms with morphologic features highly overlapping with LGFMS and SEF but lacking MUC4 expression and EWSR1/FUS-CREB3L gene fusions. Seven tumors showed fusions of the YAP1 and KMT2A genes, and 1 had a fusion of PRRX1 and KMT2D; all but 1 case displayed reciprocal gene fusions. At gene expression profiling, YAP1 and KMT2A/PRRX1 and KMT2D tumors were distinct from LGFMS/SEF. The patients were 4 female individuals and 4 male individuals aged 11 to 91 years. Tumors with known locations were in the lower extremity (5), trunk (2), and upper extremity (1); 3 originated in acral locations. Tumor size ranged from 2.5 to 13 cm. Proportions of SEF-like and LGFMS-like areas varied considerably among tumors. All tumors that showed infiltrative growth and mitotic figures per 10 HPFs ranged from 0 to 18. Tumor necrosis was present in 1 case. Follow-up was available for 5 patients (11 to 321 mo), 2 of whom developed local recurrences, and 1 died of metastatic disease. The clinical behavior of these soft tissue sarcomas remains to be further delineated in larger series with extended follow-up; however, our limited clinical data indicate that they are potentially aggressive.", "doi": "10.1097/PAS.0000000000001423", "pmid": "31913156", "labels": {"Clinical Genomics Lund": "Service", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "00000478-202005000-00003"}], "notes": [], "created": "2020-12-02T03:53:53.417Z", "modified": "2024-01-16T13:48:42.553Z"}