慢性髓系白血病细胞遗传学检查的临床意义分析

Exploration of the clinical significance of cytogenetic analysis in chronic myeloid leukemia

目的 探讨慢性髓系白血病 (CML)患者细胞遗传学改变与疾病的诊断、分期、分险率分组之间的关系。材料与方法 15 5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 ,骨髓短期培训常规G显带后进行核型分析。结果 15 5例CML患者中 ,14 8例Ph(+) ,占 95 5 % ,Ph(- )患者 7例 (4 5 % ) ,其中 4例Ph(- ) /bcr -abl(+) ,3例Ph(- ) /bcr-abl(- )。慢性期患者中 2 1例 (15 6 % )发生附加染色体畸变 ,主要有 +8(5例 ) ,+Ph(4例 ) ,+19(2例 ) ,-Y(2例 ) ,1q - (2例 )等 ;附加染色体畸变率高危组 >中危组 >低危组。加速期和急变期患者中 14例 (70 % )有附加染色体数量和 /或结构异常。结论 慢性期CML是一组高度异质性疾病 ,附加染色体畸变频率与疾病的风险度正相关 ,是判断疾病预后的有用参数。加速期、急变期CML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。

Objective: To explore the relationship between the cytogenetic changes of CML patients and the diagnosis, clinical phase and the risk index of the disease. Materials and Methods: According to the diagnostic criteria and the risk index of the patients, 155 cases of patients were grouped into three risk groups and phased into three clinical phase. Their bone marrow aspirated and used for G banding and karyotype analysis. Results: 148 cases(95.5%) possess the Ph'chromosome.Among the other 7 cases without Ph'chromosome,4 cases were found bcr/abl fusion gene positive. The ratio of possessing additional cytogenetic abnormality is higher in patients of blast crisis or high risk group than in patients of chronic phase or low risk group. Conclusion: Chronic CML is a group of diseases with high heterogeneity and the prognosis of the patients is mostly due to the biological behavior of the tumor. The occurrence of additional chromosomal abnormality is highly correlative to the risk index and clinical phase of the patients and can be considered as a parameter of prognosis.