title: NUP214-RAC1 and RAC1-COL12A1 Fusion in Complex Variant Translocations Involving Chromosomes 6, 7 and 9 in an Acute Myeloid Leukemia Case with DEK-NUP214.
abstract: DEK-NUP214 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 NUP214 (9q34) was fused to exon 2 of RAC1 (7p22). We also detected that the 5'-end of intron 1 of RAC1 was fused with the antisense strand of intron 5 of COL12A1 (6q13). RT-PCR analysis confirmed the expression of DEK-NUP214, NUP214-RAC1, RAC1-COL12A1, NUP214, and RAC1. These results suggest that the 5'- and 3'-ends of NUP214 from the breakpoint in the same locus were fused to RAC1 and DEK, respectively, and the 5'-end of RAC1 was fused to COL12A1. The reading frame of NUP214 was not matched with RAC1; however, high expression of the RAC1 protein was detected by Western blotting. This study identifies the variant complex fusion genesNUP214-RAC1 and RAC1- COL12A1 in a case of AML.
authors.affiliation: Department of Hematology, Fujita Health University, Toyoake, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Abe
authors.forename: Yukiya
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Sachiko
authors.initials: S
authors.lastname: Iba
authors.forename: Akinao
authors.initials: A
authors.lastname: Okamoto
authors.forename: Masutaka
authors.initials: M
authors.lastname: Tokuda
authors.forename: Yoko
authors.initials: Y
authors.lastname: Inaguma
authors.forename: Masamitsu
authors.initials: M
authors.lastname: Yanada
authors.forename: Satoko
authors.initials: S
authors.lastname: Morishima
authors.forename: Tadaharu
authors.initials: T
authors.lastname: Kanie
authors.forename: Motohiro
authors.initials: M
authors.lastname: Tsuzuki
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Akatsuka
authors.forename: Shuichi
authors.initials: S
authors.lastname: Mizuta
authors.forename: Masataka
authors.initials: M
authors.lastname: Okamoto
authors.forename: Toshiki
authors.initials: T
authors.lastname: Kameyama
authors.forename: Akila
authors.initials: A
authors.lastname: Mayeda
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Emi
mesh_terms: D000328:Adult; D002877:Chromosomes, Human; D024082:Collagen Type XII / Q000235:genetics*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017423:Sequence Analysis, RNA; D032681:Spectral Karyotyping; D014178:Translocation, Genetic; D020830:rac1 GTP-Binding Protein / Q000235:genetics*
chemical_list: C547160:COL12A1 protein, human; D024082:Collagen Type XII; C085914:NUP214 protein, human; D028861:Nuclear Pore Complex Proteins; C107953:RAC1 protein, human; D020830:rac1 GTP-Binding Protein