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Diagnostic Pathology
Published in: Diagnostic Pathology 1/2011

Open Access 01-12-2011 | Research

Characterization of a newly identified ETV6-NTRK3 fusion transcript in acute myeloid leukemia

Authors: Johanna M Kralik, Wolfgang Kranewitter, Hans Boesmueller, Renate Marschon, Gertraud Tschurtschenthaler, Holger Rumpold, Kurt Wiesinger, Martin Erdel, Andreas L Petzer, Gerald Webersinke

Published in: Diagnostic Pathology | Issue 1/2011

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Abstract

Background

Characterization of novel fusion genes in acute leukemia is important for gaining information about leukemia genesis. We describe the characterization of a new ETV6 fusion gene in acute myeloid leukemia (AML) FAB M0 as a result of an uncommon translocation involving chromosomes 12 and 15.

Methods

The ETV6 locus at 12p13 was shown to be translocated and to constitute the 5' end of the fusion product by ETV6 break apart fluorescence in situ hybridisation (FISH). To identify a fusion partner 3' rapid amplification of cDNA-ends with polymerase chain reaction (RACE PCR) was performed followed by cloning and sequencing.

Results

The NTRK3 gene on chromosome 15 was found to constitute the 3' end of the fusion gene and the underlying ETV6-NTRK3 rearrangement was verified by reverse transcriptase PCR. No RNA of the reciprocal NTRK3-ETV6 fusion gene could be detected.

Conclusion

We have characterized a novel ETV6-NTRK3 fusion transcript which has not been previously described in AML FAB M0 by FISH and RACE PCR. ETV6-NTRK3 rearrangements have been described in secretory breast carcinoma and congenital fibrosarcoma.
Appendix
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Metadata
Title
Characterization of a newly identified ETV6-NTRK3 fusion transcript in acute myeloid leukemia
Authors
Johanna M Kralik
Wolfgang Kranewitter
Hans Boesmueller
Renate Marschon
Gertraud Tschurtschenthaler
Holger Rumpold
Kurt Wiesinger
Martin Erdel
Andreas L Petzer
Gerald Webersinke
Publication date
01-12-2011
Publisher
BioMed Central
Published in
Diagnostic Pathology / Issue 1/2011
Electronic ISSN: 1746-1596
DOI
https://doi.org/10.1186/1746-1596-6-19

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