title: Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts (RAEB).
abstract: 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.
authors.affiliation: Dipartimento di Scienze Biomediche, Sezione di Genetica Medica, Università G. D'Annunzio, Chieti, Italy. g.calabrese@dsb.unich.it
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Calabrese
authors.forename: Donatella
authors.initials: D
authors.lastname: Fantasia
authors.forename: Elisena
authors.initials: E
authors.lastname: Morizio
authors.forename: Patrizia M
authors.initials: PM
authors.lastname: Toro
authors.forename: Paolo Guanciali
authors.initials: PG
authors.lastname: Franchi
authors.forename: Antonella
authors.initials: A
authors.lastname: Fornaro
authors.forename: Antonio
authors.initials: A
authors.lastname: Spadano
authors.forename: Liborio
authors.initials: L
authors.lastname: Stuppia
authors.forename: Giandomenico
authors.initials: G
authors.lastname: Palka
mesh_terms: 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
chemical_list: D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase