A new aberrantly spliced transcript variant (e13a1) identified in routine monitoring using different quantitative reverse transcription polymerase chain reaction techniques in a patient with chronic myeloid leukemia.

Quantitative reverse transcription polymerase chain reaction (qRT-PCR) of transcript level is an essential part of routine disease monitoring in patients with chronic myeloid leukemia. One patient sample (e13a2 transcript detected by nested PCR) attracted attention by revealing an aberrantly spliced transcript variant e13a1. The last 38 base pairs (bp) of exon 13 were replaced by a 37 bp insertion of the intron 1-2/exon 1 sequence. The rare aberrant fusion transcript can cause discrepancies in molecular diagnostics. This scenario highlights the importance of an individual characterization of the fusion sequence in case of unclear qRT-PCR results.