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.