
<ArticleTitle>A novel gene, <prot>NSD1</prot>, is fused to <prot>NUP98</prot> in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia.</ArticleTitle>
<AbstractText>The recurrent translocation t(5;11)(q35;p15.5) associated with a 5q deletion, del(5q), has been reported in childhood acute myeloid leukemia (AML). We report the cloning of the translocation breakpoints in de novo childhood AML harboring a cryptic t(5;11)(q35;p15.5). Fluorescence in situ hybridization (FISH) analysis demonstrated that the <prot>nucleoporin</prot> gene (<prot>NUP98</prot>) at 11p15.5 was disrupted by this translocation. By using 3'--rapid amplification of complementary DNA ends (3'-RACE) polymerase chain reaction, we identified a chimeric messenger RNA that results in the in-frame fusion of <prot>NUP98</prot> to a novel gene, <prot>NSD1</prot>. The <prot>NSD1</prot> gene has 2596 amino acid residues and a 85% homology to the murine <prot>Nsd1</prot> with the domain structure being conserved. The <prot>NSD1</prot> gene was localized to 5q35 by FISH and is widely expressed. The reciprocal transcript, NSD1-NUP98, was also detected by reverse transcriptase--polymerase chain reaction. This is the first report in which the novel gene <prot>NSD1</prot> has been implicated in human malignancy. (Blood. 2001;98:1264-1267)</AbstractText>
