title: Clonal evolution to acute myeloblastic leukemia with MLL gene rearrangement from trisomy 8 clone.
abstract: A 20-year-old Japanese man was referred because of severe pancytopenia with 14% of abnormal blasts in hypocellular bone marrow. After treatment by granulocyte colony-stimulating factor (G-CSF) and transfusions of red blood cells, spontaneous remission was subsequently achieved. After 3 months' remission, however, the patient developed AML characterized by the abnormal karyotype: 46XY,+8,t(9;11)(p22;q23). FISH study revealed the presence of trisomy 8 clone also in the hypoplastic state. While MLL-AF9 chimeric mRNA was observed in leukemic cells, it was not detectable in bone marrow cells from the hypoplastic state by RT-PCR. This is the first report of a trisomy 8 clone which evolved into one with a MLL gene rearrangement.
authors.forename: Y
authors.initials: Y
authors.lastname: Katayama
authors.forename: H
authors.initials: H
authors.lastname: Takimoto
authors.forename: N
authors.initials: N
authors.lastname: Fujii
authors.forename: G
authors.initials: G
authors.lastname: Kimura
authors.forename: E
authors.initials: E
authors.lastname: Omoto
authors.forename: M
authors.initials: M
authors.lastname: Harada
mesh_terms: D002891:Chromosomes, Human, Pair 21; D004268:DNA-Binding Proteins / Q000235:genetics*; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics / Q000473:pathology*; D008297:Male; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D051788:Myeloid-Lymphoid Leukemia Protein; D009687:Nuclear Proteins / Q000235:genetics; D011519:Proto-Oncogenes; D014157:Transcription Factors; D014178:Translocation, Genetic; D014314:Trisomy
chemical_list: D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; C489901:MLLT3 protein, human; D009687:Nuclear Proteins; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase