Background: The landmark of chronic myeloid leukemia (CML) is the reciprocal translocation t(9;22)(q34;q11), generating the BCR-ABL1 hybrid gene. About 15 types of fusion transcripts have been described to date. Among the rarer types, e19a2 was described for the first time in 1990 by Saglio et al. (1). Here, we report on a new case of CML with the e19a2 transcript.
Methods: A 38 year-old male patient was referred for genetic investigations with a clinical diagnosis of CML. Karyotyping and molecular genetics investigations (reverse-transcription and sequencing) were performed.
Results: t(9;22)(q34;q11.2) was found in 100 % of metaphases and the patient's BCR-ABL1 fusion gene showed the rare variant transcript e19a3 with no sequence alterations.
Conclusions: CML with e19a2 fusion transcript is a rare disease with a large variety of clinical manifestations and unclear biological significance. Adding new cases to the current knowledge will contribute to the understanding of its mechanisms and the clarification of its prognosis.
DOI: Clin. Lab. 2011;57:1041-1042