A case of acute myelogenous leukemia with MLL-AF10 fusion caused by insertion of 5' MLL into 10p12, with concurrent 3' MLL deletion.
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.
Matsuda
Kazuyuki
K
Department of Laboratory Medicine, Shinshu University Hospital, 3-1-1 Asashi, Matsumoto, Japan.
Hidaka
Eiko
E
Ishida
Fumihiro
F
Yamauchi
Kazuyoshi
K
Makishima
Hideki
H
Ito
Toshiro
T
Suzuki
Takefumi
T
Imagawa
Eri
E
Sano
Kenji
K
Katsuyama
Tsutomu
T
Ota
Hiroyoshi
H
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
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