Chronic myeloid leukemia with e6a2 fusion gene: a case report and literature review

VernacularTitle:伴BCR::ABL1 e6a2融合基因慢性髓性白血病1例报告并文献复习
Author: Jingjing LI ¹ ; Lingling YUE ; Pengyun ZENG ; Chongyang WU ; Huiling CHEN
Author Information

1. 兰州大学第二医院血液科，兰州　730030
From: Chinese Journal of Hematology 2024;45(3):299-302
CountryChina
Language:Chinese
Abstract: Chronic myeloid leukemia (CML) with e6a2 transcript type is very rare in clinic,which is usually related to disease aggressiveness. Its clinical characteristics and relationship with tyrosine kinase inhibitor efficacy are still unclear. In this paper, the clinical characteristics and related laboratory tests of a patient with e6a2 fusion gene positive CML characterized by multiple osteolytic bone destruction throughout the body and eosinophil infiltration in gastrointestinal tract, lymph nodes and other organs were retrospectively analyzed, and the relevant literature was reviewed. The patient was Ph chromosome positive with chromosome +8, and the common BCR::ABL1 transcript of CML was negative, but e6a2 transcript was positive detected by RT-PCR. The patient was treated with dasatinib 100 mg/d. Three months later, the patients achieved CHR, CCyR and MR4.0. However, the e6a2 transcript is very rare in clinical practice, and more cases of e6a2 transcript need to be studied to clarify its clinical characteristics and improve the treatment effect of these rare cases.