血液病150例染色体核型分析及其临床意义

Analysis of Karyotypic Changes in 150 Hematologic Cases and Its Clinical Significance

目的 :探讨血液系统疾病的染色体核型异常及其与临床的关系。方法 :采用直接法和短期培养法制备骨髓及外周血细胞染色体 ,以R显带技术进行染色体核型分析。结果 :本组 15 0例 ,急性白血病 5 3例 ,其中急性淋巴细胞白血病 2 2例、急性非淋巴细胞白血病 30例 ,急性混合细胞白血病 1例 ,有核型异常者各为 10例、16例及 1例 ;慢性髓细胞白血病 (CML) 4 5例 ,4 1例有Ph染色体 ;CML急变期 9例中有 8例发现附加染色体异常 ;慢性淋巴细胞白血病 12例 ,仅 4例有核型异常 ;骨髓增生异常综合征 15例中 7例有核型异常 ;10例再生障碍性贫血 ,8例骨髓增殖性疾病 ,4例淋巴瘤 ,3例多发性骨髓瘤 ,核型均正常。结论 :染色体核型分析是血液系统疾病诊断、分型。

Object: To evaluate the karyotypic changes of hematologic diseases and its clinical relationships. Methods: Chromosome preparations were made from bone marrow cells by using direct and short time culture. Karyotypes were analyzed by R-banding technique. Results: Among 53 acute leukemias, 22 cases were acute lymphoblastic, 30 cases were acute nonlymphocytic, one case with mixed leukemia; chromosome abnormalities were detected in 10 cases, 16 cases and one case respectively. Among 45 chronic myeloid leukemias (CML), 41 cases were Ph chromosome positive. In 8/9 CML patients in acute phase additional chromosome abnormalities were demonstrated. Among 12 cases with chronic lymphoid leukemia, only four cases showed chromosome anomalies. Among 15 cases with myelodysplastic syndrome, 7 cases with chromosomal aberrations, 10 cases with aplastic anemia, 8 cases with myeloid proliferation disease, 4 cases with non-Hodgkin lymphoma, 3 cases with mutilple myeloma all showed normal karyotype. Conclusion: Chromosome karyotypic analysis is an important tool for diagnosis, classification, predicting prognosis and follow-up monitoring of hematologic diseases.