Chronic myeloid leukemia with atypical transcript e8a2: a case report and literature review

Chronic myeloid leukemia (CML) is characterized by the BCR::ABL1 fusion gene, resulting from Philadelphia (Ph) chromosome rearrangements that generate abnormal t (9; 22)(q34;q11) translocations. The most common fusion variants are e13a2 and e14a2. We diagnosed a case of CML with the rare e8a2 fusion variant using real-time quantitative PCR and sequencing. Although the e8a2 variant is increasingly reported in CML, comprehensive retrospective analyses remain scarce. Through a systematic review of published e8a2 BCR::ABL1 cases, we summarized the classification, treatment outcomes, and prognostic characteristics associated with this rare genotype. This analysis aims to provide additional evidence to facilitate improved diagnosis and therapeutic strategies for e8a2-positive CML patients.