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Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13)

Beverloo, H. Berna; Panagopoulos, Ioannis LU ; Isaksson, Margareth LU ; van Wering, Elisabeth; van Drunen, Ellen; de Klein, Annelies; Johansson, Bertil LU and Slater, Rosalyn (2001) In Cancer Research 61(14). p.5374-5377
Abstract
Recently, we and others reported a recurrent t(7;12)(q36;p13) found in myeloid malignancies in children < or =18 months of age and associated with a poor prognosis. Fluorescence in situ hybridization studies mapped the 12p13 breakpoint to the first intron of ETV6 and narrowed down the region of 7q36 involved. By using the sequences made public recently by the Human Genome Project, two candidate genes in 7q36 were identified: the homeobox gene HLXB9 and c7orf3, a gene with unknown function. Reverse transcription-PCR of two cases with t(7;12), using primers for c7orf3 and ETV6, was negative. However, reverse transcription-PCR for HLXB9-ETV6 demonstrated alternative splicing; the two major bands corresponded to fusion of exon 1 of HLXB9 to... (More)
Recently, we and others reported a recurrent t(7;12)(q36;p13) found in myeloid malignancies in children < or =18 months of age and associated with a poor prognosis. Fluorescence in situ hybridization studies mapped the 12p13 breakpoint to the first intron of ETV6 and narrowed down the region of 7q36 involved. By using the sequences made public recently by the Human Genome Project, two candidate genes in 7q36 were identified: the homeobox gene HLXB9 and c7orf3, a gene with unknown function. Reverse transcription-PCR of two cases with t(7;12), using primers for c7orf3 and ETV6, was negative. However, reverse transcription-PCR for HLXB9-ETV6 demonstrated alternative splicing; the two major bands corresponded to fusion of exon 1 of HLXB9 to exons 2 and 3, respectively, of ETV6. The reciprocal ETV6-HLXB9 transcript was not detected. It remains to be elucidated if the leukemic phenotype is attributable to the formation of the HLXB9-ETV6 fusion protein, which includes the helix-loop-helix and E26 transformation-specific DNA binding domains of ETV6 or to the disruption of the normal ETV6 protein. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Cancer Research
volume
61
issue
14
pages
5374 - 5377
publisher
American Association for Cancer Research Inc.
external identifiers
  • pmid:11454678
  • scopus:0035878943
ISSN
1538-7445
language
English
LU publication?
yes
id
b3ab0b5a-487a-440e-82da-9148c1dbe468 (old id 1122188)
alternative location
http://cancerres.aacrjournals.org/content/61/14/5374.full
date added to LUP
2008-06-25 09:44:20
date last changed
2018-07-29 04:00:12
@article{b3ab0b5a-487a-440e-82da-9148c1dbe468,
  abstract     = {Recently, we and others reported a recurrent t(7;12)(q36;p13) found in myeloid malignancies in children &lt; or =18 months of age and associated with a poor prognosis. Fluorescence in situ hybridization studies mapped the 12p13 breakpoint to the first intron of ETV6 and narrowed down the region of 7q36 involved. By using the sequences made public recently by the Human Genome Project, two candidate genes in 7q36 were identified: the homeobox gene HLXB9 and c7orf3, a gene with unknown function. Reverse transcription-PCR of two cases with t(7;12), using primers for c7orf3 and ETV6, was negative. However, reverse transcription-PCR for HLXB9-ETV6 demonstrated alternative splicing; the two major bands corresponded to fusion of exon 1 of HLXB9 to exons 2 and 3, respectively, of ETV6. The reciprocal ETV6-HLXB9 transcript was not detected. It remains to be elucidated if the leukemic phenotype is attributable to the formation of the HLXB9-ETV6 fusion protein, which includes the helix-loop-helix and E26 transformation-specific DNA binding domains of ETV6 or to the disruption of the normal ETV6 protein.},
  author       = {Beverloo, H. Berna and Panagopoulos, Ioannis and Isaksson, Margareth and van Wering, Elisabeth and van Drunen, Ellen and de Klein, Annelies and Johansson, Bertil and Slater, Rosalyn},
  issn         = {1538-7445},
  language     = {eng},
  number       = {14},
  pages        = {5374--5377},
  publisher    = {American Association for Cancer Research Inc.},
  series       = {Cancer Research},
  title        = {Fusion of the homeobox gene HLXB9 and the ETV6 gene in infant acute myeloid leukemias with the t(7;12)(q36;p13)},
  volume       = {61},
  year         = {2001},
}