Li J J, Yue L L, Zeng P Y, Wu C Y, Chen H L
Department of Hematology, the Second Hospital of Lanzhou University, Lanzhou 730030, China.
Zhonghua Xue Ye Xue Za Zhi. 2024 Mar 14;45(3):299-302. doi: 10.3760/cma.j.cn121090-20230930-00156.
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.
e6a2转录本类型的慢性髓性白血病（CML）在临床上非常罕见，通常与疾病侵袭性相关。其临床特征以及与酪氨酸激酶抑制剂疗效的关系仍不明确。本文回顾性分析了1例以全身多发溶骨性骨破坏、胃肠道及淋巴结等器官嗜酸性粒细胞浸润为特征的e6a2融合基因阳性CML患者的临床特征及相关实验室检查，并复习相关文献。该患者Ph染色体阳性，伴有+8染色体，CML常见的BCR::ABL1转录本阴性，但经RT-PCR检测e6a2转录本阳性。患者接受达沙替尼100mg/d治疗。3个月后，患者达到CHR、CCyR及MR4.0。然而，e6a2转录本在临床实践中非常罕见，需要更多e6a2转录本病例进行研究，以明确其临床特征并提高这些罕见病例的治疗效果。
