155例髓系白血病细胞遗传学分析与临床关系探讨

目的：从慢性髓系白血病（CML）的诊断、分期、风险率分组及治疗方案等4个方面来探讨患者骨髓细胞遗传学改变与疾病之间的关系。方法：155例CML患者按《血液病诊断及疗效标准》及Sokal危险指数进行分期分组，取骨髓行常规G显带后进行核型分析。结果：155例CML患者中，Ph1( )148例（95.5％），Ph1(-)7例（4.5％）；21例慢性期CML发生附加染色体畸变，占慢性期患者总数的15.6％；所有急变或加速期患者均发现有Ph1染色体，14例（70％）有附加染色体数量和/或结构异常，比慢性期患者多见；Ph1( )细胞百分率不随病程而改变。结论：慢性期CML是一组高度异质性疾病，肿瘤生物学恶性的高低决定了病人的预后。CML进入加速、急变期是肿瘤演化的结果，多伴有非随机的附加染色体异常，这些染色体的出现可作为预后评估的指标；同时细胞遗传学分析有助于CML的疗效判断及指导治疗，有利于发现新的肿瘤演化克隆。

Clinical significance of cytogenetic analysis in chronic myeloid leukemia (with report of 155 cases).

OBJECTIVE: To explore the relation of cytogenetic changes in patients with chronic myeloid leukemia (CML) to the diagnosis, clinical staging and therapy protocol of the disease. METHODS: According to established diagnostic criteria, 155 CML patients were divided into 3 groups and 3 clinical phases were identified on the basis of their Sokal scores. The bone marrow was obtained for G banding and karyotype analysis. RESULTS: It was found that 148 patients (95.5%) carried Ph1 chromosome. Among the other 7 cases without Ph1 chromosome, 4 were identified as being bcr/abl fusion gene positive. The ratio of additional cytogenetic abnormalities were higher in patients in blast crisis or accelerated phase than in patients in chronic phase. CONCLUSION: CML consists of a group of diseases with high heterogeneity, and the prognoses of the patients mostly depend on the malignancy of the tumor. The occurrence of additional chromosomal abnormality is highly correlative with the risk index and clinical staging of the patients, which may serve prognostic purposes. Conventional cytogenetic analysis may help evaluate the therapeutic effect and make subsequent clinical decisions, and may also facilitate new karyotype identification.