{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:31:10Z","timestamp":1791858670286,"version":"4.3.4"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,8,27]],"date-time":"2019-08-27T00:00:00Z","timestamp":1566864000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002794","name":"Cancerfonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002794","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["pathsocjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pathology"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Undifferentiated pleomorphic sarcoma (UPS) is a highly aggressive soft tissue tumor. A subset of UPS is characterized by a\n                    <jats:italic>CITED2<\/jats:italic>\n                    \u2013\n                    <jats:italic>PRDM10<\/jats:italic>\n                    or a\n                    <jats:italic>MED12<\/jats:italic>\n                    \u2013\n                    <jats:italic>PRDM10<\/jats:italic>\n                    gene fusion. Preliminary data suggest that these so\u2010called\n                    <jats:italic>PRDM10<\/jats:italic>\n                    \u2010rearranged tumors (PRT) are clinically more indolent than classical high\u2010grade UPS, and hence important to recognize. Here, we assessed the spectrum of accompanying mutations and the gene expression profile in PRT using genomic arrays and sequencing of the genome (WGS) and transcriptome (RNA\u2010seq). The fusion protein's function was further investigated by conditional expression of the\n                    <jats:italic>CITED2<\/jats:italic>\n                    \u2013\n                    <jats:italic>PRDM10<\/jats:italic>\n                    fusion in a fibroblast cell line, followed by RNA\u2010seq and an assay for transposase\u2010accessible chromatin (ATAC\u2010seq). The\n                    <jats:italic>CADM3<\/jats:italic>\n                    gene was found to be differentially up\u2010regulated in PRT and cell lines and was also evaluated for expression at the protein level using immunohistochemistry (IHC). The genomic analyses identified few and nonrecurrent mutations in addition to the structural variants giving rise to the gene fusions, strongly indicating that the\n                    <jats:italic>PRDM10<\/jats:italic>\n                    \u2010fusions represent the critical driver mutations. RNA\u2010seq of tumors showed a distinct gene expression profile, separating PRT from high\u2010grade UPS and other soft tissue tumors.\n                    <jats:italic>CADM3<\/jats:italic>\n                    was among the genes that was consistently and highly expressed in both PRT and fibroblasts expressing\n                    <jats:italic>CITED2<\/jats:italic>\n                    \u2010\n                    <jats:italic>PRDM10<\/jats:italic>\n                    , suggesting that it is a direct target of the PRDM10 transcription factor. This conclusion is in line with sequencing data from ATAC\u2010seq, showing enrichment of PRDM10 binding sites, suggesting that the amino\u2010terminal fusion partner contributes by making the DNA more accessible to PRDM10 binding. \u00a9 2019 Pathological Society of Great Britain and Ireland. Published by John Wiley &amp; Sons, Ltd.\n                  <\/jats:p>","DOI":"10.1002\/path.5326","type":"journal-article","created":{"date-parts":[[2019,7,17]],"date-time":"2019-07-17T04:35:32Z","timestamp":1563338132000},"page":"425-434","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Undifferentiated pleomorphic sarcomas with\n                    <i>PRDM10<\/i>\n                    fusions have a distinct gene expression profile"],"prefix":"10.1002","volume":"249","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8787-1866","authenticated-orcid":false,"given":"Jakob","family":"Hofvander","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Puls","sequence":"additional","affiliation":[{"name":"Department of Pathology and Clinical Genetics Sahlgrenska University Hospital  Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nischalan","family":"Pillay","sequence":"additional","affiliation":[{"name":"Department of Histopathology Royal National Orthopaedic Hospital  Stanmore UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher D","family":"Steele","sequence":"additional","affiliation":[{"name":"UCL Cancer Institute  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrienne M","family":"Flanagan","sequence":"additional","affiliation":[{"name":"Department of Histopathology Royal National Orthopaedic Hospital  Stanmore UK"},{"name":"UCL Cancer Institute  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Magnusson","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Nilsson","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fredrik","family":"Mertens","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"},{"name":"Department of Clinical Genetics, Office for Medical Services, Division of Laboratory Medicine Lund University  Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,8,27]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"WHO Classification of Tumours of Soft Tissue and Bone","author":"Fletcher 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