<it>SET-NUP214 </it>fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines
<p>Abstract</p> <p>Background</p> <p><it>SET-NUP214 </it>fusion resulting from a recurrent cryptic deletion, del(9)(q34.11q34.13) has recently been described in T-cell acute lymphoblastic leukemia (T-ALL) and in one case of acute myeloid leukemia (AML). The...
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doaj-6d13ab9a8169494a9f134fe78584ef802020-11-24T23:58:14ZengBMCJournal of Hematology & Oncology1756-87222009-01-0121310.1186/1756-8722-2-3<it>SET-NUP214 </it>fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell linesZaborski MargareteRomani JuliaRöhrs SonjaSchneider BjörnQuentmeier HilmarMacLeod Roderick AFDrexler Hans G<p>Abstract</p> <p>Background</p> <p><it>SET-NUP214 </it>fusion resulting from a recurrent cryptic deletion, del(9)(q34.11q34.13) has recently been described in T-cell acute lymphoblastic leukemia (T-ALL) and in one case of acute myeloid leukemia (AML). The fusion protein appears to promote elevated expression of <it>HOXA </it>cluster genes in T-ALL and may contribute to the pathogenesis of the disease. We screened a panel of ALL and AML cell lines for <it>SET-NUP214 </it>expression to find model systems that might help to elucidate the cellular function of this fusion gene.</p> <p>Results</p> <p>Of 141 human leukemia/lymphoma cell lines tested, only the T-ALL cell line LOUCY and the AML cell line MEGAL expressed the <it>SET(TAF-</it>Iβ)-<it>NUP214 </it>fusion gene transcript. RT-PCR analysis specifically recognizing the alternative first exons of the two <it>TAF-</it>I isoforms revealed that the cell lines also expressed <it>TAF-</it>Iα-<it>NUP214 </it>mRNA. Results of fluorescence in situ hybridization (FISH) and array-based copy number analysis were both consistent with del(9)(q34.11q34.13) as described. Quantitative genomic PCR also confirmed loss of genomic material between <it>SET </it>and <it>NUP214 </it>in both cell lines. Genomic sequencing localized the breakpoints of the <it>SET </it>gene to regions downstream of the stop codon and to <it>NUP214 </it>intron 17/18 in both LOUCY and MEGAL cells. Both cell lines expressed the 140 kDa SET-NUP214 fusion protein.</p> <p>Conclusion</p> <p>Cell lines LOUCY and MEGAL express the recently described <it>SET-NUP214 </it>fusion gene. Of special note is that the formation of the <it>SET </it>exon 7/<it>NUP214 </it>exon 18 gene transcript requires alternative splicing as the <it>SET </it>breakpoint is located downstream of the stop codon in exon 8. The cell lines are promising model systems for <it>SET-NUP214 </it>studies and should facilitate investigating cellular functions of the the SET-NUP214 protein.</p> http://www.jhoonline.org/content/2/1/3 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Zaborski Margarete Romani Julia Röhrs Sonja Schneider Björn Quentmeier Hilmar MacLeod Roderick AF Drexler Hans G |
spellingShingle |
Zaborski Margarete Romani Julia Röhrs Sonja Schneider Björn Quentmeier Hilmar MacLeod Roderick AF Drexler Hans G <it>SET-NUP214 </it>fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines Journal of Hematology & Oncology |
author_facet |
Zaborski Margarete Romani Julia Röhrs Sonja Schneider Björn Quentmeier Hilmar MacLeod Roderick AF Drexler Hans G |
author_sort |
Zaborski Margarete |
title |
<it>SET-NUP214 </it>fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines |
title_short |
<it>SET-NUP214 </it>fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines |
title_full |
<it>SET-NUP214 </it>fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines |
title_fullStr |
<it>SET-NUP214 </it>fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines |
title_full_unstemmed |
<it>SET-NUP214 </it>fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines |
title_sort |
<it>set-nup214 </it>fusion in acute myeloid leukemia- and t-cell acute lymphoblastic leukemia-derived cell lines |
publisher |
BMC |
series |
Journal of Hematology & Oncology |
issn |
1756-8722 |
publishDate |
2009-01-01 |
description |
<p>Abstract</p> <p>Background</p> <p><it>SET-NUP214 </it>fusion resulting from a recurrent cryptic deletion, del(9)(q34.11q34.13) has recently been described in T-cell acute lymphoblastic leukemia (T-ALL) and in one case of acute myeloid leukemia (AML). The fusion protein appears to promote elevated expression of <it>HOXA </it>cluster genes in T-ALL and may contribute to the pathogenesis of the disease. We screened a panel of ALL and AML cell lines for <it>SET-NUP214 </it>expression to find model systems that might help to elucidate the cellular function of this fusion gene.</p> <p>Results</p> <p>Of 141 human leukemia/lymphoma cell lines tested, only the T-ALL cell line LOUCY and the AML cell line MEGAL expressed the <it>SET(TAF-</it>Iβ)-<it>NUP214 </it>fusion gene transcript. RT-PCR analysis specifically recognizing the alternative first exons of the two <it>TAF-</it>I isoforms revealed that the cell lines also expressed <it>TAF-</it>Iα-<it>NUP214 </it>mRNA. Results of fluorescence in situ hybridization (FISH) and array-based copy number analysis were both consistent with del(9)(q34.11q34.13) as described. Quantitative genomic PCR also confirmed loss of genomic material between <it>SET </it>and <it>NUP214 </it>in both cell lines. Genomic sequencing localized the breakpoints of the <it>SET </it>gene to regions downstream of the stop codon and to <it>NUP214 </it>intron 17/18 in both LOUCY and MEGAL cells. Both cell lines expressed the 140 kDa SET-NUP214 fusion protein.</p> <p>Conclusion</p> <p>Cell lines LOUCY and MEGAL express the recently described <it>SET-NUP214 </it>fusion gene. Of special note is that the formation of the <it>SET </it>exon 7/<it>NUP214 </it>exon 18 gene transcript requires alternative splicing as the <it>SET </it>breakpoint is located downstream of the stop codon in exon 8. The cell lines are promising model systems for <it>SET-NUP214 </it>studies and should facilitate investigating cellular functions of the the SET-NUP214 protein.</p> |
url |
http://www.jhoonline.org/content/2/1/3 |
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