Chronic myeloid leukemia with the e13a3 atypical fusion gene: A case report

The present report aims to improve our systematic understanding of the clinicopathological characteristics of chronic myeloid leukemia (CML) associated with the e13a3 transcript and to offer insights into potential treatment options for this rare subtype of CML. This case presents a 39-year-old male patient of Chinese descent diagnosed with CML featuring an atypical fusion gene identified by the e13a3 transcript. The patient was treated with second-generation tyrosine kinase inhibitor. An analysis of BCR-ABL1 using reverse transcription PCR following 6 months of treatment revealed a negative BCR-ABL1 fusion, indicating deep molecular remission. After 2 years of treatment, the patient developed skin sclerosis. Overall, to prevent missed diagnoses and misdiagnoses, it is recommended that a comprehensive clinical evaluation be performed, and the underlying etiology be proactively identified.