FISH analysis of an AML-M5a with segmental rearrangements involving 11q23-MLL region.
A 66-year-old man was diagnosed 10 years ago with thrombocytosis and treated with hydroxyurea. Recently, his condition deteriorated and he was found to have 68% blasts in the blood and AML-M5a. Conventional cytogenetic analysis and fluorescence in situ hybridization studies using 11-painting and MLL probes showed that chromosome 11 had duplications or triplications; the markers were also derived from the chromosome 11-MLL region. Therefore, we have demonstrated segmental rearrangement of chromosome 11 involving the MLL region resulting in multiple copies of the MLL gene.
Reddy
K S
KS
Quest Diagnostics Inc., San Juan Capistrano, CA 92690, USA.
Parsons
L
L
Wang
S
S
Mak
L
L
Dighe
P
P
Yu
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TL
D000368:Aged; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005784:Gene Amplification / Q000235:genetics; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007948:Leukemia, Monocytic, Acute / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D051788:Myeloid-Lymphoid Leukemia Protein; D011519:Proto-Oncogenes; D013922:Thrombocytosis / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D014157:Transcription Factors
D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase