PMID- 15075073
OWN - NLM
STAT- MEDLINE
DCOM- 20060227
LR  - 20061115
IS  - 1592-8721 (Electronic)
IS  - 0390-6078 (Linking)
VI  - 89
IP  - 4
DP  - 2004 Apr
TI  - Partial duplication of the MLL oncogene in patients with aggressive acute myeloid 
      leukemia.
PG  - 403-7
AB  - BACKGROUND AND OBJECTIVES: MLL translocations generate a fusion gene between the 
      5' end of MLL and the 3' end of different partner genes. Several chromosomal 
      mechanisms including complex and cryptic changes lead to these recombinations. 
      Our objective was to analyze the molecular composition of chromosomes in complex 
      karyotypes with specific MLL translocations. DESIGN AND METHODS: Fluorescence in 
      situ hybridization (FISH) was performed in two acute leukemias (AL), one acute 
      myeloid leukemia (AML) M5a, and one treatment-related-AL (t-AL), to investigate 
      the nature of complex changes accompanying the respective 
      t(9;11)(p22;q23)-MLL/AF9 and t(11;16)(q23;p13.3)-MLL/CBP. RESULTS: In the case 
      with the MLL/AF9 chimeric transcript, duplication of a der(1) originated from an 
      additional unbalanced translocation between the der(9)t(9;11) and a chromosome 1. 
      The 5'AF9/3'MLL chimeric gene was present on both der(1). In the second case, 
      there was a t(11;16)(q23;p13.3) producing one der(11) and two der(16) which 
      derived from both homologs. One der(16) was present in multiple copies all 
      containing the 5'CBP/3'MLL fusion gene. INTERPRETATION AND CONCLUSIONS: In both 
      cases the 3' end of MLL was present in multiple copies. Mitotic recombination and 
      non-disjunction may underlie the extra derivatives in both cases. In this genomic 
      imbalance not only the 5'MLL but also the 3'end of MLL could play a critical role 
      in the leukemic process.
FAU - Sambani, Constantina
AU  - Sambani C
AD  - Laboratory of Health Physics & Environmental Hygiene, NCSR Demokritos, 15310 
      Athens, Greece.
FAU - La Starza, Roberta
AU  - La Starza R
FAU - Roumier, Christophe
AU  - Roumier C
FAU - Crescenzi, Barbara
AU  - Crescenzi B
FAU - Stavropoulou, Chryssa
AU  - Stavropoulou C
FAU - Katsarou, Olga
AU  - Katsarou O
FAU - Karafoulidou, Anastasia
AU  - Karafoulidou A
FAU - Dhalle, Jean Hugues
AU  - Dhalle JH
FAU - Lai, Jean-Luc
AU  - Lai JL
FAU - Preudhomme, Claude
AU  - Preudhomme C
FAU - Martelli, Massimo Fabrizio
AU  - Martelli MF
FAU - Mecucci, Cristina
AU  - Mecucci C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Italy
TA  - Haematologica
JT  - Haematologica
JID - 0417435
RN  - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein)
SB  - IM
MH  - Acute Disease
MH  - Adult
MH  - Chromosomes, Human, Pair 11
MH  - Chromosomes, Human, Pair 16
MH  - Chromosomes, Human, Pair 9
MH  - Cytogenetic Analysis
MH  - Female
MH  - *Gene Duplication
MH  - Humans
MH  - Infant
MH  - Leukemia, Myeloid/*genetics
MH  - Male
MH  - Myeloid-Lymphoid Leukemia Protein/*genetics
MH  - Translocation, Genetic
EDAT- 2004/04/13 05:00
MHDA- 2006/02/28 09:00
CRDT- 2004/04/13 05:00
PHST- 2004/04/13 05:00 [pubmed]
PHST- 2006/02/28 09:00 [medline]
PHST- 2004/04/13 05:00 [entrez]
PST - ppublish
SO  - Haematologica. 2004 Apr;89(4):403-7.