{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T12:40:15Z","timestamp":1762864815625},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,9,20]],"date-time":"2004-09-20T00:00:00Z","timestamp":1095638400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2004,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We performed cytogenetic and molecular studies on an adult patient with refractory anemia with an excess of blasts with an add(11)(p15). Multicolor fluorescence in situ hybridization (FISH) identified the extra material on 11p as belonging to chromosome 15. Metaphase FISH with probes for chromosomes 5, 11, and 15 revealed a complex four\u2010break rearrangement. Clone RP5\u20101173K1, containing exons 10\u201320 of the <jats:italic>NUP98<\/jats:italic> gene, gave three fluorescence signals on the normal 11, the der(5), and the der(15). 3\u2032\u2010RACE\u2010PCR identified an in\u2010frame fusion between <jats:italic>NUP98<\/jats:italic> and <jats:italic>NSD1<\/jats:italic>, which was confirmed by RT\u2010PCR. Two different spliced forms, that is, <jats:italic>NUP98<\/jats:italic> exon 11\/<jats:italic>NSD1<\/jats:italic> exon 6 and <jats:italic>NUP98<\/jats:italic> exon 12\/<jats:italic>NSD1<\/jats:italic> exon 6, were detected. The reciprocal <jats:italic>NSD1<\/jats:italic>\/<jats:italic>NUP98<\/jats:italic> was not found. A dual\u2010color experiment with RP5\u20101173K1 and CTC\u2010549A4, spanning the entire <jats:italic>NSD1<\/jats:italic> gene, indicated an insertion of <jats:italic>NUP98<\/jats:italic> into the <jats:italic>NSD1<\/jats:italic> locus. This is the first report of an adult with myelodysplastic syndrome (MDS) harboring an <jats:italic>NUP98<\/jats:italic>\/<jats:italic>NSD1<\/jats:italic> fusion resulting from insertion of 5\u2032\u2010<jats:italic>NUP98<\/jats:italic> into the <jats:italic>NSD1<\/jats:italic>\/5q35 locus. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20103","type":"journal-article","created":{"date-parts":[[2004,9,20]],"date-time":"2004-09-20T19:01:10Z","timestamp":1095706870000},"page":"395-399","source":"Crossref","is-referenced-by-count":29,"title":["Cryptic insertion producing two <i>NUP98\/NSD1<\/i> chimeric transcripts in adult refractory anemia with an excess of blasts"],"prefix":"10.1002","volume":"41","author":[{"given":"Roberta","family":"La Starza","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Gorello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Rosati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Riezzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Veronese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eros","family":"Ferrazzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo F.","family":"Martelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Negrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Mecucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,9,20]]},"reference":[{"key":"e_1_2_3_2_1","unstructured":"AHFS drug information.2003. 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