A novel BCR-ABL transcript e2a2 in a chronic myelogenous leukaemia patient with a duplicated Ph-chromosome and monosomy 7.
A novel BCR-ABL transcript was detected by multiplex RT-PCR in a patient with Philadelphia chromosome (Ph) positive chronic myelogenous leukaemia (CML) in accelerated phase. Sequencing of the aberrant transcript revealed an in-frame e2a2 fusion that included a 9 basepairs insertion. Cytogenetic analysis showed t(9;22), an additional Ph chromosome and monosomy 7. The clinical course was dismal: therapy was poorly tolerated, and the patient died in blast crisis 10 months after diagnosis. These data support the association of additional Ph and monosomy 7 with poor prognosis and suggest that the novel e2a2 BCR-ABL transcript may be related to an aggressive clinical course.
Leibundgut
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Central Haematology Laboratory, University and Inselspital Berne, Lusaeen, Switzerland. elisabeth.oppliger@dkf5.unibe.ch
Jotterand
M
M
Rigamonti
V
V
Parlier
V
V
Mühlematter
D
D
Tobler
A
A
Solenthaler
M
M
D000368:Aged; D002869:Chromosome Aberrations / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D009006:Monosomy / Q000235:genetics; D014178:Translocation, Genetic
D016044:Fusion Proteins, bcr-abl