{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:46:28Z","timestamp":1788871588155,"version":"build-2803163510"},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:00:00Z","timestamp":1760745600000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp;amp; Cancer"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Myxoid liposarcoma (MLS) accounts for 20%\u201330% of all liposarcomas, with most cases harboring the fusion gene\n                    <jats:italic>FUS::DDIT3<\/jats:italic>\n                    , while approximately 5% exhibit the\n                    <jats:italic>EWSR1::DDIT3<\/jats:italic>\n                    fusion. We report the case of a 26\u2010year\u2010old male patient with a right upper arm mass. The tumor displayed the classic histological features of MLS, including small spindle\/ovoid cells, variable univacuolated lipoblasts, and a prominent myxoid stroma with delicate arborizing vasculature. Despite these characteristic features, fluorescence in\u00a0situ hybridization (FISH) revealed no apparent rearrangement of the\n                    <jats:italic>DDIT3<\/jats:italic>\n                    locus. Next\u2010generation sequencing (NGS) identified a novel fusion transcript in which\n                    <jats:italic>SMARCA2<\/jats:italic>\n                    exon 4 was fused in\u2010frame with\n                    <jats:italic>DDIT3<\/jats:italic>\n                    exon 2. Chromosomal microarray analysis demonstrated the unbalanced nature of the rearrangement, with partial deletions of 0.243 and 0.176\u2009Mb flanking the centromeric end of the\n                    <jats:italic>DDIT3<\/jats:italic>\n                    locus on 12q13.3 (which also included\n                    <jats:italic>GLI<\/jats:italic>\n                    ) and disrupting the\n                    <jats:italic>SMARCA2<\/jats:italic>\n                    locus on 9p24, respectively. The resultant chimeric fusion protein is predicted to lack the\n                    <jats:italic>SMARCA2<\/jats:italic>\n                    DNA\u2010binding domains while retaining the\n                    <jats:italic>DDIT3<\/jats:italic>\n                    leucine zipper dimerization domain. These findings indicate an unusual and complex rearrangement, leading to the recruitment of a novel\n                    <jats:italic>DDIT3<\/jats:italic>\n                    partner gene. Moreover, they emphasize that the functional aspects of myxoid liposarcoma fusion genes depend on the retention of the key\n                    <jats:italic>DDIT3<\/jats:italic>\n                    domain. Finally, this case illustrates how classic morphology can appropriately trigger reflex molecular analyses, which may, in turn, uncover novel fusion genes or other molecular alterations.\n                  <\/jats:p>","DOI":"10.1002\/gcc.70089","type":"journal-article","created":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T16:01:13Z","timestamp":1760803273000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel\n                    <scp>\n                      <i>SMARCA2<\/i>\n                    <\/scp>\n                    ::\n                    <scp>\n                      <i>DDIT3<\/i>\n                    <\/scp>\n                    Fusion in Primary Subcutaneous Myxoid Liposarcoma due to an Unusual Unbalanced Chromosomal Translocation"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1719-3692","authenticated-orcid":false,"given":"Ahmed","family":"Shah","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"},{"name":"Department of Laboratory Medicine and Pathology University of Alberta  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William R.","family":"Sukov","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Halling","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lukas","family":"Marcelis","sequence":"additional","affiliation":[{"name":"Department of Pathology UZ Leuven  Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic  Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,10,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0020294"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cup.12428"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/363640a0"},{"issue":"3","key":"e_1_2_8_5_1","first-page":"489","article-title":"Fusion of the EWS and CHOP Genes in Myxoid Liposarcoma","volume":"12","author":"Panagopoulos I.","year":"1996","journal-title":"Oncogene"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.23103"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2013.83"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2024.10.004"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2024.04.003"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1516"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22335"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22336"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.70089","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T13:43:53Z","timestamp":1761831833000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.70089"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":11,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1002\/gcc.70089"],"URL":"https:\/\/doi.org\/10.1002\/gcc.70089","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10]]},"assertion":[{"value":"2025-09-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70089"}}