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

JM Kralik, W Kranewitter, H Boesmueller… - Diagnostic …, 2011 - Springer
JM Kralik, W Kranewitter, H Boesmueller, R Marschon, G Tschurtschenthaler, H Rumpold…
Diagnostic pathology, 2011Springer
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 …
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.
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