PMID- 8913730
OWN - NLM
STAT- MEDLINE
DCOM- 19970225
LR  - 20071115
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 17
IP  - 2
DP  - 1996 Oct
TI  - Correlation between the ETV6/CBFA2 (TEL/AML1) fusion gene and karyotypic 
      abnormalities in children with B-cell precursor acute lymphoblastic leukemia.
PG  - 127-35
AB  - The recently identified ETV6/CBFA2 (formerly known as TEL/AML1) fusion gene 
      occurs as a result of the t(12;21)(p12;q22). Initial reports have indicated that 
      the fusion transcript occurs in up to 30% of children diagnosed with B-cell 
      precursor (CD10+, CD19+) acute lymphoblastic leukemia (ALL). In order to 
      characterize the incidence of the t(12;21) at both the chromosomal level as well 
      as the RNA transcript level, we have used a combination of classical 
      cytogenetics, reverse transcriptase-polymerase chain reaction (RT-PCR), and 
      fluorescence in situ hybridization (FISH) to examine the bone marrow of 34 
      children diagnosed with B-cell precursor ALL. Nine of the 34 patient samples 
      expressed the ETV6/CBFA2 transcript. When the results of RT-PCR were compared 
      with the conventional karyotype, the fusion was present in 3 of 10 (33%) with 
      chromosome 12 abnormalities, none of whom had an obvious t(12;21). The transcript 
      was also detected in 5 of the 12 (41%) bone marrow samples with other 
      abnormalities and in 1 of 12 (8%) samples with a normal karyotype. Seven of the 9 
      RT-PCR positive patient samples were studied with FISH. Of the 7, FISH confirmed 
      the ETV6/CBFA2 fusion in 6. One other patient with a 12p abnormality had evidence 
      for the fusion using FISH which was not detected by RT-PCR. Our results not only 
      confirm that the frequency of the t(12;21) is unusually high in childhood B-cell 
      precursor ALL, but also that none of the translocations in our series was 
      detected with conventional cytogenetic techniques.
FAU - Fears, S
AU  - Fears S
AD  - Department of Molecular Genetics and Cellular Biology, University of Chicago, 
      Illinois, USA.
FAU - Vignon, C
AU  - Vignon C
FAU - Bohlander, S K
AU  - Bohlander SK
FAU - Smith, S
AU  - Smith S
FAU - Rowley, J D
AU  - Rowley JD
FAU - Nucifora, G
AU  - Nucifora G
LA  - eng
GR  - CA 40046/CA/NCI NIH HHS/United States
GR  - CA 42557/CA/NCI NIH HHS/United States
GR  - CA 67189/CA/NCI NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA, Messenger)
RN  - 0 (TEL-AML1 fusion protein)
RN  - EC 2.7.7.49 (RNA-Directed DNA Polymerase)
SB  - IM
MH  - Burkitt Lymphoma/*genetics
MH  - Child
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 12
MH  - Core Binding Factor Alpha 2 Subunit
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Neoplasm Proteins/*genetics
MH  - *Oncogene Proteins, Fusion
MH  - Polymerase Chain Reaction
MH  - Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics
MH  - RNA, Messenger/analysis
MH  - RNA-Directed DNA Polymerase
MH  - *Translocation, Genetic
EDAT- 1996/10/01 00:00
MHDA- 2000/06/20 09:00
CRDT- 1996/10/01 00:00
PHST- 1996/10/01 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1996/10/01 00:00 [entrez]
AID - 10.1002/(SICI)1098-2264(199610)17:2<127::AID-GCC8>3.0.CO;2-7 [pii]
AID - 10.1002/(SICI)1098-2264(199610)17:2<127::AID-GCC8>3.0.CO;2-7 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 1996 Oct;17(2):127-35. doi: 
      10.1002/(SICI)1098-2264(199610)17:2<127::AID-GCC8>3.0.CO;2-7.