Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts (RAEB).
A patient with refractory anaemia with excess of blasts (RAEB) had a complex karyotype with multiple markers. Spectral karyotyping (SKY) showed rearrangements including three different der(11), containing a very high number of MLL gene copies, shown by fluorescence in situ hybridization (FISH) analysis. Fibre-FISH experiments disclosed the presence of chromatin fibres with multiple MLL copies with a head-to-tail pattern. Apparently, no other region flanking the MLL site was present in the three der(11). MLL amplification was confirmed by the reverse transcription polymerase chain reaction (RT-PCR). The patient died 6 months after diagnosis, supporting the severe prognosis of sole MLL amplification.
Calabrese
Giuseppe
G
Dipartimento di Scienze Biomediche, Sezione di Genetica Medica, Università G. D'Annunzio, Chieti, Italy. g.calabrese@dsb.unich.it
Fantasia
Donatella
D
Morizio
Elisena
E
Toro
Patrizia M
PM
Franchi
Paolo Guanciali
PG
Fornaro
Antonella
A
Spadano
Antonio
A
Stuppia
Liborio
L
Palka
Giandomenico
G
D000368:Aged; D000754:Anemia, Refractory, with Excess of Blasts / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D004268:DNA-Binding Proteins / Q000235:genetics*; D005784:Gene Amplification; D015321:Gene Rearrangement; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping / Q000379:methods; D008297:Male; D051788:Myeloid-Lymphoid Leukemia Protein; D011519:Proto-Oncogenes; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors
D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase