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 ABL exon a2, with a 55‐base pair (bp) insert of an inverted sequence of ABL intron 1b 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 BCR–ABL transcripts not detected by standard techniques.