title: A novel BCR-ABL transcript e2a2 in a chronic myelogenous leukaemia patient with a duplicated Ph-chromosome and monosomy 7.
abstract: 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.
authors.affiliation: Central Haematology Laboratory, University and Inselspital Berne, Lusaeen, Switzerland. elisabeth.oppliger@dkf5.unibe.ch
authors.forename: E O
authors.initials: EO
authors.lastname: Leibundgut
authors.forename: M
authors.initials: M
authors.lastname: Jotterand
authors.forename: V
authors.initials: V
authors.lastname: Rigamonti
authors.forename: V
authors.initials: V
authors.lastname: Parlier
authors.forename: D
authors.initials: D
authors.lastname: Mühlematter
authors.forename: A
authors.initials: A
authors.lastname: Tobler
authors.forename: M
authors.initials: M
authors.lastname: Solenthaler
mesh_terms: 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
chemical_list: D016044:Fusion Proteins, bcr-abl