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目的探讨血液病患者有关核型改变及其意义。方法抽取骨髓标本2～5ml,采用骨髓细胞直接法、24h短期培养法制备染色体标本,用G显带技术进行核型分析。结果 561例血液病患者中,常规细胞遗传学发现异常核型282例(50.3%),其中结构异常116例(20.7%),数目异常84例(15.0%),同时有结构异常和数目异常82例(14.6%)。不同类型血液病患者染色体检测结果不同,在急性髓系白血病(AML)、急性淋巴细胞白血病(ALL)、慢性粒细胞白血病(CML)、骨髓增生异常综合症(MDS)、再生障碍性贫血(AA)、骨髓增殖性疾病(MPD)、淋巴瘤、血小板减少症中异常核型分别为56.5%(109/193)、44.9%(57/127)、74.7%(62/83)、56.7%(34/60)、3.7%(1/27)、0%(0/15)、72.7%(8/11)、0%(0/5),在急性混合细胞白血病、特发性血小板减少性紫癜(ITP)、多发性骨髓瘤(MM)、慢性粒单细胞白血病(CMML)、淋巴瘤白血病、慢性淋巴细胞白血病(CLL)、纯红再障、恶性组织细胞病等较少患者中,异常核型分别为25.0%(2/8)、0%(0/8)、20%(1/5)、0%(0/5)、100%(4/4)、40%(2/5)、0%(0/3)、100%(2/2)。M2伴t(8;21),M3伴t(15;17),M4伴inv(16)、t(16;16),ALL伴t(9;22)CR率分别为88.2%、94.7%、80%、45.5%。结论染色体核型分析在恶性血液病诊断、分型、预后判断和指导治疗中具有重要意义。
Objective To investigate the karyotype changes in patients with hematological diseases and its significance. Methods Bone marrow samples were taken from 2 to 5 ml. Chromosome samples were prepared by direct method of bone marrow cells and short-term culture of 24h, and karyotype analysis was performed by G-banding technique. Results Of the 561 hematological patients, 282 cases (50.3%) had abnormal cytogenetics, of which 116 were structural abnormalities (20.7%), 84 were abnormalities (15.0%), with structural abnormalities and abnormal numbers 82 Example (14.6%). Chromosome test results vary among patients with different types of hematological disorders and have been reported in patients with AML, ALL, CML, MDS, AA ), Myeloproliferative disorders (MPD), lymphoma and thrombocytopenia were 56.5% (109/193), 44.9% (57/127), 74.7% (62/83) and 56.7% /60),3.7%(1/27),0%(0/15),72.7%(8/11),0%(0/5) in acute mixed leukemia, idiopathic thrombocytopenic purpura ( (ITP), multiple myeloma (MM), chronic myelomonocytic leukemia (CMML), lymphoma leukemia, chronic lymphocytic leukemia (CLL), pure red aplasia and malignant histiocytosis, Were 25.0% (2/8), 0% (0/8), 20% (1/5), 0% (0/5), 100% (4/4), 40% 0% (0/3), 100% (2/2). The CR rates of M2 with t (8; 21), M3 with t (15,17), M4 with inv (16), t (16,16) and ALL with t (9,22) were 88.2%, 94.7% 80%, 45.5%. Conclusion Chromosome karyotype analysis is of great significance in the diagnosis, classification, prognosis and treatment of hematologic malignancies.