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目的:探讨国产达沙替尼治疗e8a2 BCR-ABL1慢性粒细胞白血病的疗效。方法:患者,男,25岁,因“恶心、厌食”1周来诊。血常规检查、骨髓细胞学检查及骨髓活检免疫组织化学检查支持慢性粒细胞白血病(慢性期)诊断。经典G显带技术、FISH检查和巢式PCR产物测序分析发现该患者无明显Ph染色体,同时BCRABL1融合基因转录本为非经典型e8a2,由22号染色体上BCR基因片段插入9号染色体ABL1基因产生。结果:该患者经羟基脲治疗10d后获得完全血液学缓解,随后国产达沙替尼治疗3个月后获得完全细胞生物学缓解和早期分子生物学缓解,6个月时获主要分子生物学缓解。达沙替尼治疗期间无胸腔积液、发热、肺炎等不良反应发生。结论:该患者诊治经验提示,国产达沙替尼用于e8a2 BCR-ABL1慢性粒细胞白血病(慢性期)患者有效且安全。
Objective: To investigate the efficacy of dasatinib in the treatment of e8a2 BCR-ABL1 chronic myeloid leukemia. Method: Patient, male, 25 years old, due to “nausea, anorexia” 1 week consultation. Blood tests, bone marrow cytology and bone marrow biopsy immunohistochemical tests support the diagnosis of chronic myelogenous leukemia (chronic phase). Classical G banding technique, FISH examination and nested PCR product sequencing analysis found that the patient had no obvious Ph chromosome, while the BCRABL1 fusion gene transcript was non-classical e8a2. On chromosome 22, the BCR gene fragment was inserted into chromosome 9 ABL1 gene . Results: The patients were completely hematologically relieved after treatment with hydroxyurea for 10 days. After 3 weeks of treatment with dasatinib, the patients were completely rehabilitated by cytology and rehabilitated by early molecular biology. The main molecular biological response was achieved at 6 months . Dasatinib no pleural effusion during treatment, fever, pneumonia and other adverse reactions. Conclusion: The diagnosis and treatment of this patient suggest that domestic dasatinib is effective and safe for e8a2 BCR-ABL1 chronic myeloid leukemia (chronic phase) patients.