Identification of a novel CBFB-MYH11 transcript: implications for RT-PCR diagnosis.
BACKGROUND
The chromosome rearrangements inv(16)(p13q22) or t(16;16)(p13;q22) are present in approximately 10% of all cases with de novo acute myeloid leukemia and define a subgroup with a favorable prognosis. Both aberrations result in a CBFB-MYH11 fusion gene that can be detected by RT-PCR.


METHODS
To date, a total of 10 different in-frame CBFB-MYH11 fusion transcripts have been identified. A newly described transcript can not be amplified with the commonly used PCR primers since the MYH11 junction is located outside the amplified region (MYH11 cDNA position 2134).


RESULTS
We describe here a robust two-step RT-PCR assay that reliably detects all known CBFB-MYH11 transcripts types, including the new variant.


CONCLUSIONS
Because all previously established RT-PCR protocols may miss the new CBFB-MYH11 transcript, we propose to use the improved RT-PCR approach described here for the reliable detection of all known CBFB-MYH11 fusion transcripts.
Van der Reijden
B A
BA
Institute of Hematology, Erasmus University Rotterdam, The Netherlands. b.vanderreijden@chl.azn.nl
de Wit
L
L
van der Poel
S
S
Luiten
E B
EB
Lafage-Pochitaloff
M
M
Dastugue
N
N
Gabert
J
J
Löwenberg
B
B
Jansen
J H
JH
D014408:Biomarkers, Tumor / Q000235:genetics*; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics* / Q000648:ultrastructure; D004252:DNA Mutational Analysis; D017931:DNA Primers; D006801:Humans; D015479:Leukemia, Myelomonocytic, Acute / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D011379:Prognosis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
D014408:Biomarkers, Tumor; C095514:CBFbeta-MYH11 fusion protein; D017931:DNA Primers; D015514:Oncogene Proteins, Fusion