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Updated: Apr 27, 2026

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Case Report: A chronic myeloid leukemia patient with e8a2 BCR::ABL1 fusion transcript was successfully treated with
Shanfeng Hao1, Yao Zhang1, Qing Shao1
1Department of Hematology, Tianjin Medical University General Hospital, Tianjin, China.
Abstract:
The majority of patients with chronic myeloid leukemia (CML) present with BCR::ABL1 transcripts involving the b2a2 (e13a2) and/or b3a2 (e14a2) junctions. However, a small subset of cases exhibit atypical breakpoints. These atypical BCR::ABL1 transcripts are found in approximately 2% of CML patients. It is essential to identify these atypical variants as they respond to tyrosine kinase inhibitor therapy, similar to patients with the more common transcript types. This report described a CML patient with a rare e8a2 BCR::ABL1 transcript variant, who also presented with difficult-to-correct iron-deficiency anemia. The patient was treated with Flumatinib and achieved complete hematologic remission at 1 month, complete cytogenetic remission at 3 months, and major molecular remission at 6 months.
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