E355G 突变出现在一名对伊马替尼耐药的 e19a2 慢性髓性白血病患者中。
E355G mutation appearing in a patient with e19a2 chronic myeloid leukaemia resistant to imatinib.
机构信息
Department of Cytogenetics Molecular Genetics, Farhat Hached University Teaching Hospital, Sousse, Tunisia.
出版信息
J Clin Pathol. 2010 Aug;63(8):737-40. doi: 10.1136/jcp.2010.078311.
The development of imatinib is a milestone in the treatment of chronic myeloid leukaemia (CML), and its therapeutic effect has been extensively investigated in patients with CML who carry M-bcr and m-bcr BCR-ABL fusion transcripts. However, knowledge about its therapeutic effect on patients with CML who have the rare BCR-ABL fusion transcript e19a2 (mu-bcr) remains sparse. This report describes a patient with Philadelphia-positive chronic myeloid leukaemia with e19a2 rearrangement, in whom E355G mutation had been acquired. The patient was resistant to imatinib treatment based on conventional cytogenetic and fluorescence in situ hybridisation analysis.
伊马替尼的发展是治疗慢性髓性白血病（CML）的一个里程碑，其在携带 M-bcr 和 m-bcr BCR-ABL 融合转录本的 CML 患者中的治疗效果已经得到了广泛研究。然而，关于其对携带罕见 BCR-ABL 融合转录本 e19a2（mu-bcr）的 CML 患者的治疗效果的知识仍然很少。本报告描述了一例费城阳性慢性髓性白血病伴 e19a2 重排的患者，该患者获得了 E355G 突变。根据常规细胞遗传学和荧光原位杂交分析，该患者对伊马替尼治疗耐药。
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