Open Access Research

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

Johanna M Kralik1, Wolfgang Kranewitter1, Hans Boesmueller2, Renate Marschon1, Gertraud Tschurtschenthaler34, Holger Rumpold4, Kurt Wiesinger5, Martin Erdel1, Andreas L Petzer4 and Gerald Webersinke1*

Author affiliations

1 Laboratory of Molecular Biology and Tumorcytogenetics, Department of Internal Medicine I, Krankenhaus der Barmherzigen Schwestern, Seilerstaette 4, 4010 Linz, Austria

2 Institute of Pathology, Krankenhaus der Barmherzigen Schwestern, Seilerstaette 4, 4010 Linz, Austria

3 Laboratory for Hematology, Department of Internal Medicine I, Krankenhaus der Barmherzigen Schwestern, Seilerstaette 4, 4010 Linz, Austria

4 Department of Internal Medicine I; Krankenhaus der Barmherzigen Schwestern, Seilerstaette 4, 4010 Linz, Austria

5 Institute of Laboratory Medicine BB&BS, Krankenhaus der Barmherzigen Schwestern, Seilerstaette 4, 4010 Linz, Austria

For all author emails, please log on.

Citation and License

Diagnostic Pathology 2011, 6:19  doi:10.1186/1746-1596-6-19

Published: 15 March 2011

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.