【作者】 王蕾；

【导师】 哈力达·亚森；

【作者基本信息】 新疆医科大学 ， 内科学， 2009， 硕士

【摘要】 目的：急性髓细胞性白血病是造血系统的恶性肿瘤,而肿瘤的发生发展与染色体的改变密切相关。研究表明,绝大多数白血病患者都有非随机的染色体畸变和相应的融合基因异常,它们对于白血病的诊断分型,预后估计,治疗方案的选择乃至发病机制的研究都有极为重要的价值。本研究的目的旨在了解急性髓细胞性白血病患者染色体核型及融合基因的分布规律,同时结合国内外细胞遗传学危险度划分标准,了解核型与预后的相关性。方法：95例AML患者采用直接法及24 h培养法制备染色体,同时实时定量逆转录聚合酶链反应技术(RQ-PCR)检测t(8；21)易位的AML1/ETO融合基因及t(15；17)易位的PML/RARa融合基因。并观察85例完成第二疗程化疗患者的治疗效果。结果：本研究95例AML患者中,异常核型占50例(52.6%),各亚型的异常率为：M392.3%,M244.7%,M421.4%,M150%,M516.7%。最常见的数目异常为+8染色体占6例(12.0%),最常见的结构异常为t(15；17)占24例(48.0%),t(8；21)占15例(30.0%), RQ-PCR检测M2、M3相关的融合基因AML1/ETO及PML/RARa均发现了隐匿易位及变异易位。对完成治疗的85例患者做二疗程结束时疗效统计,按其细胞遗传学危险度分为3组,其治疗有效率依次为：高危组：50.0%,中危组：74.5%,低危组：88.9%,结合其年龄、起病时白细胞计数等因素进行比较,各组之间有统计学意义(P<0.05)。结论：对成人AML进行染色体分析及融合基因的检测,有助于AML诊断,有助于判断预后及治疗选择。影响急性白血病预后的因素众多,细胞遗传学改变是急性白血病中有价值的预后因素。更多还原

【Abstract】 Objective:The incidence and development of tumors which maybe closely related to cytogenetic abnormalities. Acute myeloid leukemia (AML) is a malignant tumor of hemopoietic system. It has been studied that the majority of patients with leukemia have non-random chromosome aberrations and fusion gene which may provide important information for typing, prognostic evaluation, options of treatment, and even the researches of pathogenesis. The purpose of this article is to study the distribution of karyotype and the relationship between chromosome abnormalities and prognostic in AML according to known domestic and international hierarchical cytogenetic classification. Methods:Cytogenetic examination of bone marrow cells was performed by short-turn culture method. G banding technique was used for karyotype analysis.AML1/ETO fusion gene and PML/RARa alpha fusion gene were analyzed respectively by RQ-PCR in 95 AML patients.65 patients accepted the two course of treatment.Their response and survival rate were analyzed.Results:Karyotypic abnormalities were detected in 50 of 95 patients (52.6%). The expression rate in FAB subtypes were M3 92.3%, M2 44.7%, M4 21.4%, M1 50%, M5 16.7%.6 cases were numerical abnormalities.24 cases with variant of t (15; 17) and 15 cases with variant of t(8; 12) were detected. Dormant and variance translocations were found when applying RQ-PCR technique to detect AML1-ETO fusion gene and PML-RARa fusion gene which were associated with FAB subtypes M2 and M3. To analyze the remission rate accepted the two course of treatment about the 64 patients except M3.It classify three groups according to cytogenetics,the high risk group was 50%,mediate risk group was 74.5%,low risk was 88.9%. The remission rate were statistically difference (P<0.05) in three groups. Conclusion:Chromosome analysis and detection of fusion genes are helpful in the diagnosis of AML and the differentiation of AML subtype and treatment. Genetic abnormality is a factor influences the t reatment response of acute leukemia.更多还原