A novel BCR-ABL transcript (e8a2) with the insertion of an inverted sequence of ABL intron 1b in a patient with Philadelphia-positive chronic myeloid leukaemia

An atypical BCR-ABL transcript in a patient with Philadelphia (Ph)-positive chronic myeloid leukaemia (CML) was detected using a long polymerase chain reaction technique, Sequence analysis revealed a joining of BCR exon e8 and ABI, exon a2, with a 55-base pair (bp) insert of an inverted sequence of ABL intron Ib between them, giving rise to an in frame e8a2. BCR-ABL transcript, This is the first report of a BCR-ABL transcript with the insertion of an inverted sequence. The long PCR technique is a useful screen for atypical RCR-ABL transcripts not detected by standard techniques.