title: Coexistence of alternative MLL-SEPT9 fusion transcripts in an acute myeloid leukemia with t(11;17)(q23;q25).
abstract: We present the characterization at the RNA level of an acute myeloid leukemia with a t(11;17)(q23;q25) and a MLL rearrangement demonstrated by FISH. Molecular analysis led to the identification of two coexistent in-frame MLL-SEPT9 fusion transcripts (variants 1 and 2), presumably resulting from alternative splicing. Real-time quantitative RT-PCR analysis showed that the relative expression of the MLL-SEPT9 fusion variant 2 was 1.88 fold higher than the relative expression of MLL-SEPT9 fusion variant 1. This is the first description of a MLL-SEPT9 fusion resulting in coexistence of two alternative splicing variants, each of which previously found isolated in myeloid leukemias.
authors.affiliation: Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, Porto, Portugal.
authors.forename: Joana
authors.initials: J
authors.lastname: Santos
authors.forename: Nuno
authors.initials: N
authors.lastname: Cerveira
authors.forename: Cecília
authors.initials: C
authors.lastname: Correia
authors.forename: Susana
authors.initials: S
authors.lastname: Lisboa
authors.forename: Manuela
authors.initials: M
authors.lastname: Pinheiro
authors.forename: Lurdes
authors.initials: L
authors.lastname: Torres
authors.forename: Susana
authors.initials: S
authors.lastname: Bizarro
authors.forename: Joana
authors.initials: J
authors.lastname: Vieira
authors.forename: Luisa
authors.initials: L
authors.lastname: Viterbo
authors.forename: José M
authors.initials: JM
authors.lastname: Mariz
authors.forename: Manuel R
authors.initials: MR
authors.lastname: Teixeira
mesh_terms: D000328:Adult; D017398:Alternative Splicing; D002648:Child; D002880:Chromosomes, Human, Pair 11; D002886:Chromosomes, Human, Pair 17; D003598:Cytoskeletal Proteins / Q000235:genetics*; D019204:GTP-Binding Proteins / Q000235:genetics*; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis*; D058112:Septins; D014178:Translocation, Genetic
chemical_list: D003598:Cytoskeletal Proteins; C497422:KMT2A protein, human; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase; D019204:GTP-Binding Proteins; C436485:SEPTIN6 protein, human; C474315:SEPTIN9 protein, human; D058112:Septins