Supplementary Material for: <b><i>NUP214-RAC1</i></b> and <b><i>RAC1-COL12A1</i></b> Fusion in Complex Variant Translocations Involving Chromosomes 6, 7 and 9 in an Acute Myeloid Leukemia Case with <b><i>DEK-NUP214</i></b>

<i>DEK-NUP214</i> gene fusion in acute myeloid leukemia (AML) is associated with poor prognosis. It is most often a sole translocation and more rarely observed as complex chromosomal forms. We describe an AML case with complex karyotype abnormalities involving chromosome bands 6p23, 6q13, 7p22, and 9q34. RNA sequencing analysis revealed that exon 17 of <i>NUP214 </i>(9q34) was fused to exon 2 of <i>RAC1</i> (7p22). We also detected that the 5′-end of intron 1 of <i>RAC1</i> was fused with the antisense strand of intron 5 of <i>COL12A1</i> (6q13). RT-PCR analysis confirmed the expression of <i>DEK-NUP214</i>, <i>NUP214-RAC1</i>, <i>RAC1-COL12A1</i>, <i>NUP214</i>, and <i>RAC1</i>. These results suggest that the 5′- and 3′-ends of <i>NUP214 </i>from the breakpoint in the same locus were fused to <i>RAC1</i> and <i>DEK</i>, respectively, and the 5′-end of <i>RAC1</i> was fused to <i>COL12A1</i>. The reading frame of <i>NUP214</i> was not matched with <i>RAC1</i>; however, high expression of the RAC1 protein was detected by Western blotting. This study identifies the variant complex fusion gene<i>s</i><i>NUP214-RAC1</i> and <i>RAC1- COL12A1</i> in a case of AML.