伴ABL1激酶区T315I突变儿童慢性粒细胞白血病一例并文献复习  

Childhood chronic myeloid leukemia with T315I mutation in ABL1 kinase domain: report of one case and review of literature

作　　者：潘丽丽[1] 乐少华[1] 李健[1] 郑湧智 Pan Lili;Le Shaohua;Li Jian;Zheng Yongzhi(Department of Pediatric Hematology, Fujian Medical University Union Hospital, Fujian Institute of Hematology, Fujian Provincial Key Laboratory on Hematology, Fujian Blood Medicine Center, Fuzhou 350001, China)

机构地区：[1]福建医科大学附属协和医院小儿血液科福建省血液病研究所福建省血液病学重点实验室福建省血液医学中心,福州350001

出　　处：《白血病．淋巴瘤》2019年第9期538-540,共3页Journal of Leukemia & Lymphoma

摘　　要：目的探讨伴有ABL1激酶区T315I突变的儿童慢性粒细胞白血病(CML)的临床特征和治疗。方法回顾性分析福建医科大学附属协和医院收治的1例伴有ABL1激酶区T315I突变CML患儿的临床特征及诊治经过,并复习相关文献。结果该患儿经伊马替尼及达沙替尼治疗,BCR-ABLIS值下降后复升,疾病进展至加速期,同时ABL1激酶区检出T315I突变,改用高三尖杉酯碱化疗,病情好转,但最终因无法行造血干细胞移植,疾病进展至CML急变期,半年后死亡。结论伴ABL1激酶区T315I突变的儿童CML预后不良,在无法获得普纳替尼治疗的情况下,化疗后尽快行造血干细胞移植或可改善预后。Objective To investigate the clinical features and treatment of child patient with chronic myeloid leukemia (CML) and T315I mutation in the ABL1 kinase domain. Methods The clinical features, diagnosis and treatment of one child CML patient with T315I mutation in ABL1 kinase domain in Fujian Medical University Union Hospital were retrospectively analyzed, and the literature was reviewed. Results The patient was treated with imatinib and dasatinib. The BCR-ABLIS value decreased and then increased. The disease progressed to the accelerated phase. At the same time, the T315I mutation was detected in the ABL1 kinase domain, the harringtonine chemotherapy was used, and the condition of patient got better. But eventually the hematopoietic stem cell transplantation could not be performed, the CML progressed to the blast phase and the patient died half a year later. Conclusions The prognosis of children with CML and T315I mutation in ABL1 kinase domain is poor. In the absence of punatinib treatment, hematopoietic stem cell transplantation should be performed as soon as possible after chemotherapy, which may improve the prognosis.

关 键 词：白血病 髓样 慢性 突变 BCR-ABL融合基因 酪氨酸激酶抑制剂 

分 类 号：R733.72[医药卫生—肿瘤]