title: Characterization of a newly identified ETV6-NTRK3 fusion transcript in acute myeloid leukemia.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Laboratory of Molecular Biology and Tumorcytogenetics, Department of Internal Medicine I, Krankenhaus der Barmherzigen Schwestern, Seilerstaette 4, 4010 Linz, Austria.
authors.forename: Johanna M
authors.initials: JM
authors.lastname: Kralik
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Kranewitter
authors.forename: Hans
authors.initials: H
authors.lastname: Boesmueller
authors.forename: Renate
authors.initials: R
authors.lastname: Marschon
authors.forename: Gertraud
authors.initials: G
authors.lastname: Tschurtschenthaler
authors.forename: Holger
authors.initials: H
authors.lastname: Rumpold
authors.forename: Kurt
authors.initials: K
authors.lastname: Wiesinger
authors.forename: Martin
authors.initials: M
authors.lastname: Erdel
authors.forename: Andreas L
authors.initials: AL
authors.lastname: Petzer
authors.forename: Gerald
authors.initials: G
authors.lastname: Webersinke
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D002884:Chromosomes, Human, Pair 15; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020812:Receptor, trkC; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D004273:DNA, Neoplasm; D015514:Oncogene Proteins, Fusion; C484319:ETV6-NTRK3 fusion protein, human; D020812:Receptor, trkC; D000097764:ETS Translocation Variant 6 Protein