PMID- 12930385
OWN - NLM
STAT- MEDLINE
DCOM- 20031027
LR  - 20190816
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 122
IP  - 5
DP  - 2003 Sep
TI  - Chromosome 11 rearrangements and specific MLL amplification revealed by spectral 
      karyotyping in a patient with refractory anaemia with excess of blasts (RAEB).
PG  - 760-3
AB  - 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.
FAU - Calabrese, Giuseppe
AU  - Calabrese G
AD  - Dipartimento di Scienze Biomediche, Sezione di Genetica Medica, Universita G. 
      D'Annunzio, Chieti, Italy. g.calabrese@dsb.unich.it
FAU - Fantasia, Donatella
AU  - Fantasia D
FAU - Morizio, Elisena
AU  - Morizio E
FAU - Toro, Patrizia M
AU  - Toro PM
FAU - Franchi, Paolo Guanciali
AU  - Franchi PG
FAU - Fornaro, Antonella
AU  - Fornaro A
FAU - Spadano, Antonio
AU  - Spadano A
FAU - Stuppia, Liborio
AU  - Stuppia L
FAU - Palka, Giandomenico
AU  - Palka G
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (KMT2A protein, human)
RN  - 0 (Transcription Factors)
RN  - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein)
RN  - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase)
SB  - IM
MH  - Aged
MH  - Anemia, Refractory, with Excess of Blasts/*genetics
MH  - *Chromosomes, Human, Pair 11
MH  - DNA-Binding Proteins/*genetics
MH  - *Gene Amplification
MH  - *Gene Rearrangement
MH  - Histone-Lysine N-Methyltransferase
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping/methods
MH  - Male
MH  - Myeloid-Lymphoid Leukemia Protein
MH  - *Proto-Oncogenes
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - *Transcription Factors
EDAT- 2003/08/22 05:00
MHDA- 2003/10/28 05:00
CRDT- 2003/08/22 05:00
PHST- 2003/08/22 05:00 [pubmed]
PHST- 2003/10/28 05:00 [medline]
PHST- 2003/08/22 05:00 [entrez]
AID - 4493 [pii]
AID - 10.1046/j.1365-2141.2003.04493.x [doi]
PST - ppublish
SO  - Br J Haematol. 2003 Sep;122(5):760-3. doi: 10.1046/j.1365-2141.2003.04493.x.