PMID- 16028218
OWN - NLM
STAT- MEDLINE
DCOM- 20051122
LR  - 20061115
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 44
IP  - 3
DP  - 2005 Nov
TI  - Characterization of 6q abnormalities in childhood acute myeloid leukemia and 
      identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-C6orf80 
      fusion in a case of acute megakaryoblastic leukemia.
PG  - 225-32
AB  - Chromosome abnormalities of 6q are not frequently observed in myeloid disorders. 
      In this article, we report the incidence of these chromosome changes in childhood 
      myeloid leukemia as 2%-4% based on the cytogenetic database of a single 
      institution. We applied fluorescence in situ hybridization (FISH) to characterize 
      precisely the types of 6q abnormalities in seven patients (six with acute myeloid 
      leukemia and one with myelodysplastic syndrome). They carried various 
      translocations involving different breakpoints in 6q, as confirmed by FISH using 
      a whole-chromosome-6 paint. Four cases were reported as t(6;11), although the 
      breakpoints varied. Among these, we identified a novel translocation, 
      t(6;11)(q24.1;p15.5), in a patient with acute megakaryoblastic leukemia. 
      Molecular cytogenetic studies using the PAC clone RP5-1173K1 localized the 
      genomic breakpoint on chromosome 11 to within the NUP98 gene. The breakpoint on 
      chromosome 6 was narrowed down to a 500-kb region between BAC clones RP11-721P14 
      and RP11-39H10. Reverse-transcription PCR was performed using a forward primer 
      specific for NUP98 and a reverse primer for the candidate gene in the 500-kb 
      interval in 6q. This experiment resulted in the identification of a new fusion 
      between NUP98 and C6orf80. Further studies will aim to fully characterize C6orf80 
      and will elucidate the role of this new NUP98 fusion in myeloid leukemia.
CI  - (c) 2005 Wiley-Liss, Inc.
FAU - Tosi, Sabrina
AU  - Tosi S
AD  - Leukaemia Research Fund Molecular Haematology Unit, Nuffield Department of 
      Clinical Laboratory Science, John Radcliffe Hospital, Oxford, United Kingdom. 
      sabrina.tosi@ndcls.ox.ac.uk
FAU - Ballabio, Erica
AU  - Ballabio E
FAU - Teigler-Schlegel, Andrea
AU  - Teigler-Schlegel A
FAU - Boultwood, Jackie
AU  - Boultwood J
FAU - Bruch, Jochen
AU  - Bruch J
FAU - Harbott, Jochen
AU  - Harbott J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (DNA, Neoplasm)
RN  - 0 (Nuclear Pore Complex Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA, Neoplasm)
RN  - 0 (nuclear pore complex protein 98)
SB  - IM
MH  - Acute Disease
MH  - Adolescent
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Breakage
MH  - Chromosomes, Artificial, Bacterial
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Chromosomes, Human, Pair 6/*genetics
MH  - Cytogenetic Analysis
MH  - DNA, Neoplasm/analysis
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Leukemia, Myeloid/*genetics
MH  - Molecular Sequence Data
MH  - Nuclear Pore Complex Proteins/*genetics
MH  - Oncogene Proteins, Fusion/*genetics
MH  - RNA, Neoplasm/analysis
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - *Translocation, Genetic
EDAT- 2005/07/20 09:00
MHDA- 2005/12/13 09:00
CRDT- 2005/07/20 09:00
PHST- 2005/07/20 09:00 [pubmed]
PHST- 2005/12/13 09:00 [medline]
PHST- 2005/07/20 09:00 [entrez]
AID - 10.1002/gcc.20233 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2005 Nov;44(3):225-32. doi: 10.1002/gcc.20233.