Second case of CML with aberrant BCR‐ABL fusion transcript (e8/a2) with insertion of an inverted ABL intron 1b sequence

We found a case of Ph‐positive chronic myelogenous leukemia (CML) patient with an atypical BCR‐ABL transcript that was undetectable by a routine reverse transcription polymerase chain reaction (RT‐PCR) for major BCR‐ABL. Additional RT‐PCR and sequence analyses have demonstrated that the aberrant transcript consists of a fusion of BCR exon 8 (e8) and ABL exon 2 (a2) with an insertion of a 55‐bp inverted sequence of intron 1b between them. The nucleotide sequences of the aberrant transcript were identical to those of a previously reported CML patient. These are the only two CML cases in the literature with identical aberrant BCR‐ABL transcripts. Am. J. Hematol. 77:164–166, 2004. © 2004 Wiley‐Liss, Inc.