title: New fusion transcripts identified in normal karyotype acute myeloid leukemia.
abstract: Genetic aberrations contribute to acute myeloid leukemia (AML). However, half of AML cases do not contain the well-known aberrations detectable mostly by cytogenetic analysis, and these cases are classified as normal karyotype AML. Different outcomes of normal karyotype AML suggest that this subgroup of AML could be genetically heterogeneous. But lack of genetic markers makes it difficult to further study this subgroup of AML. Using paired-end RNAseq method, we performed a transcriptome analysis in 45 AML cases including 29 normal karyotype AML, 8 abnormal karyotype AML and 8 AML without karyotype informaiton. Our study identified 134 fusion transcripts, all of which were formed between the partner genes adjacent in the same chromosome and distributed at different frequencies in the AML cases. Seven fusions are exclusively present in normal karyotype AML, and the rest fusions are shared between the normal karyotype AML and abnormal karyotype AML. CIITA, a master regulator of MHC class II gene expression and truncated in B-cell lymphoma and Hodgkin disease, is found to fuse with DEXI in 48% of normal karyotype AML cases. The fusion transcripts formed between adjacent genes highlight the possibility that certain such fusions could be involved in oncological process in AML, and provide a new source to identify genetic markers for normal karyotype AML.
authors.affiliation: Department of Genetics, Cell Biology and Anatomy, University of Nebraska Medical Center, Omaha, NE, USA.
authors.forename: Hongxiu
authors.initials: H
authors.lastname: Wen
authors.forename: Yongjin
authors.initials: Y
authors.lastname: Li
authors.forename: Sami N
authors.initials: SN
authors.lastname: Malek
authors.forename: Yeong C
authors.initials: YC
authors.lastname: Kim
authors.forename: Jia
authors.initials: J
authors.lastname: Xu
authors.forename: Peixian
authors.initials: P
authors.lastname: Chen
authors.forename: Fengxia
authors.initials: F
authors.lastname: Xiao
authors.forename: Xin
authors.initials: X
authors.lastname: Huang
authors.forename: Xianzheng
authors.initials: X
authors.lastname: Zhou
authors.forename: Zhenyu
authors.initials: Z
authors.lastname: Xuan
authors.forename: Shiva
authors.initials: S
authors.lastname: Mankala
authors.forename: Guihua
authors.initials: G
authors.lastname: Hou
authors.forename: Janet D
authors.initials: JD
authors.lastname: Rowley
authors.forename: Michael Q
authors.initials: MQ
authors.lastname: Zhang
authors.forename: San Ming
authors.initials: SM
authors.lastname: Wang
mesh_terms: D000595:Amino Acid Sequence; D045744:Cell Line, Tumor; D050939:Gene Fusion; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics*
chemical_list: D012333:RNA, Messenger