The translocation t(9;22)(q34;q11) and its associated fusion transcripts are key indicators of chronic myeloid leukemia (CML), but atypical presentations can complicate diagnosis.
While most CML patients have common fusion transcripts e13a2 or e14a2, about 5% have rare ones like e6a2, which is linked to more aggressive disease.
In a report of two challenging cases, the e6a2 fusion transcript was successfully identified using advanced testing, and treatment with nilotinib, a second-generation tyrosine kinase inhibitor, showed effectiveness in one patient.