title: A case of acute myelogenous leukemia with MLL-AF10 fusion caused by insertion of 5' MLL into 10p12, with concurrent 3' MLL deletion.
abstract: Structural abnormalities involving the mixed-lineage leukemia (MLL) gene on 11q23 have been associated with hematological malignancies. The rearrangement of MLL occurs during translocations and insertions involving a variety of genes on the partner chromosome. We report a rare case of acute myelogenous leukemia (AML-M2) with 11q23 abnormalities. Fluorescence in situ hybridization (FISH) using a commercial dual-color MLL probe detected an atypical signal pattern: one fusion signal, two green signals smaller than those usually detected, and no orange signals. Spectral karyotyping (SKY) analysis indicated that one green signal was detected on the short arm of derivative chromosome 10, and the other green signal on the long arm of a derivative chromosome 11, on which no orange signal was detected. A long-distance inverse polymerase chain reaction (LDI-PCR) identified the fusion partner gene, in which intron 6 of MLL was fused with intron 8 of AF10 on 10p12 in the 5' to 3' direction. Our observations indicated that the MLL-AF10 fusion gene resulted from the insertion of part of the region that included the 5' MLL insertion into 10p12; this was concurrent with the deletion of 3' MLL.
authors.affiliation: Department of Laboratory Medicine, Shinshu University Hospital, 3-1-1 Asashi, Matsumoto, Japan.
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Matsuda
authors.forename: Eiko
authors.initials: E
authors.lastname: Hidaka
authors.forename: Fumihiro
authors.initials: F
authors.lastname: Ishida
authors.forename: Kazuyoshi
authors.initials: K
authors.lastname: Yamauchi
authors.forename: Hideki
authors.initials: H
authors.lastname: Makishima
authors.forename: Toshiro
authors.initials: T
authors.lastname: Ito
authors.forename: Takefumi
authors.initials: T
authors.lastname: Suzuki
authors.forename: Eri
authors.initials: E
authors.lastname: Imagawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Sano
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Katsuyama
authors.forename: Hiroyoshi
authors.initials: H
authors.lastname: Ota
mesh_terms: D000208:Acute Disease; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D017353:Gene Deletion; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000235:genetics / Q000473:pathology*; D008297:Male; D016254:Mutagenesis, Insertional / Q000235:genetics; D051788:Myeloid-Lymphoid Leukemia Protein / Q000737:chemistry / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D017422:Sequence Analysis, DNA; D032681:Spectral Karyotyping / Q000379:methods; D014157:Transcription Factors / Q000235:genetics
chemical_list: C497422:KMT2A protein, human; C470550:MLL-AF10 fusion protein, human; C092513:MLLT10 protein, human; D015514:Oncogene Proteins, Fusion; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase