儿童Ph样急性淋巴细胞白血病的基因表达及临床意义分析

发布时间：2018-05-01 19:56

本文选题：Ph样急性淋巴细胞白血病 + 基因表达　；参考：《南昌大学》2017年硕士论文

【摘要】：目的:通过检测分析ALL(acute lymphoblastic leukemia,ALL)患儿的基因表达谱,筛选出Ph-like ALL,分析其基因表达、临床特征及预后,旨在探索建立Ph-like ALL诊断方法,发现其基因表达及临床特点,为进行精准分层和制定个体化治疗方案提供依据。方法:收集2013年2月-2014年6月在我院诊断的150名ALL患儿作为研究对象,在患者及监护人知情同意下,采集骨髓细胞进行检测,所有病例符合MICM分型诊断标准。根据纳入及排除标准,共计20例患儿入组。对所有入组患儿使用Ph-like ALL相关融合基因检测试剂盒进行基因表达谱检测,根据检测结果将患者分为阳性组和阴性组,记录两组患儿的临床特征、细胞遗传学及分子遗传学特点、免疫分型、治疗反应及预后,对比两组间的差异。结果:2.1临床特征:2.1.1:年龄:5例阳性患儿年龄8.01±3.04岁,15例阴性组患儿年龄4.59±2.24岁,两组试验数据统计学上存在差异(p0.05);2.1.2性别:5例阳性患儿中男3例,女2例;15例阴性患儿男8例,女7例,两组试验数据统计学上无明显差异(p0.05);2.2血常规:5例阳性患儿初治时白细胞波动在(128.61±232.11)*109/L,阴性组患儿白细胞波动在(27.94±40.25)*109/L;阳性组血红蛋白波动在(61.50±17.13)g/L,阴性组血红蛋白波动在(78.47±27.48)g/L;阳性组血小板波动在(88.16±101.08)*109/L,阴性组血小板波动在(67.84±56.60)*109/L;两组试验数据统计学上无明显差异(p0.05)。2.3初诊时骨髓原始及幼稚细胞比例:阳性组骨髓原始及幼稚细胞比例波动在78.53%±13.95%,阴性组骨髓原始及幼稚细胞比例波动在73.43%±18.09%,;两组试验数据统计学上无明显差异(p0.05);2.4染色体核型:所有患儿均行染色体核型检查,5例阳性患儿均无异常染色体核型;2.5基因检测结果:本组共入组20例ALL患儿,Ph-like ALL相关基因检测阳性5例,PAX5-JAK2 2例,ETV6-JAK2 1例,TPR-JAK2 1例,IK6阳性1例;2.6免疫分型本组病例全部进行了免疫表型分析,5例阳性患儿中4例为B淋系抗原表达(80%),1例为T系表达(20%);其中3例为CommonB-ALL,1例为PreB-ALL。2.7治疗及随访情况5例阳性患儿其中2例(40%)按中危方案执行化疗,3例(60%)按标危方案化疗,随访至2016年10月,其中2例(40%)复发,3例(60%)存活,与对照组相比统计学上无明显差异(p0.05);同时分别统计两组第8天外周血幼稚细胞,第15天及第33天骨髓复查情况,第15天骨髓缓解率Ph-like ALL患儿明显较非Ph-like ALL低,两组试验数据统计学上存在差异(p0.05);结论:l?通过Ph-like ALL相关基因检测试剂盒(荧光RT-PCR法)检测患儿基因表达谱并筛选出Ph-like ALL是行之有效的;2、Ph-like ALL患儿发病年龄大;在发病时骨髓原始及幼稚细胞比例、性别与普通白血病无明显差异;3、Ph-like ALL更多在CommonB-ALL发病;4、Ph-like ALL基因表达JAK2易位多见;5、Ph-like ALL的存在是儿童ALL的独立预后因素;
[Abstract]:Objective: to detect and analyze the gene expression profile of ALL(acute lymphoblastic leukemiaer (ALL), screen out Ph-like ALL, analyze its gene expression, clinical characteristics and prognosis, in order to explore the diagnostic method of Ph-like ALL and find its gene expression and clinical characteristics. It provides the basis for precise stratification and individualized treatment. Methods: 150 children with ALL diagnosed in our hospital from February 2013 to June 2014 were collected and tested with the informed consent of the patient and guardian. All the cases met the diagnostic criteria of MICM typing. According to the inclusion and exclusion criteria, a total of 20 children into the group. The gene expression profile was detected by Ph-like ALL associated fusion gene detection kit. According to the results, the patients were divided into positive group and negative group. The clinical characteristics, cytogenetic and molecular genetic characteristics of the two groups were recorded. Immunological classification, therapeutic response and prognosis were compared between the two groups. Results the age of 5 cases of positive children was 8.01 卤3.04 years old and 15 cases of negative group were 4.59 卤2.24 years old. There was a statistical difference between the two groups in the two groups. There was statistical difference between the two groups. There were 3 males, 15 females, 8 males and 7 females. There was no statistical difference in the test data between the two groups (p 0.05 / 2.2). The white blood cell fluctuated in 128.61 卤232.11 / 109L / L in the first treatment in 5 positive children with blood routine examination, while in the negative group the white blood cell fluctuated in 27.94 卤40.25 / 109 / L, the hemoglobin in the positive group fluctuated at 61.50 卤17.13g / L, the hemoglobin in the negative group was 78.47 卤27.48g / L, and the positive group in the negative group was 78.47 卤27.48g / L / L, respectively. The platelet fluctuation of sex group was 88.16 卤101.08 / L, and that of negative group was 67.84 卤56.60 / L / L. There was no statistical difference between the two groups in the ratio of bone marrow primordial and infantile cells in the positive group (78.53% 卤13.95%), and the ratio of bone marrow primordial and immature cells in the positive group was 78.53% 卤13.95%, and the ratio of bone marrow primordial and immature cells in the positive group was 78.53% 卤13.95%. The proportion of bone marrow primordial and infantile cells fluctuated in 73.43% 卤18.09%, and there was no significant difference between the two groups in the data of the two groups. There was no statistical difference in chromosome karyotype between the two groups. All the children underwent chromosome karyotype examination and 5 positive children had no abnormal chromosome karyotype 2.5 gene examination. Results: Ph-like ALL related genes were detected in 5 cases of PAX5-JAK22 cases of TPR-JAK21 cases of TPR-JAK6 positive, 1 case of IK 6 positive in 1 case and 2. 6 immunophenotypic analysis of all the 20 cases of ALL. The immunophenotypic analysis was carried out in 4 of the 5 cases with positive phenotype. B lymphoid antigen expression was detected in 1 case of T line expression and 20% of T line, 3 cases of which were treated with PreB-ALL.2.7, 1 case was treated with PreB-ALL.2.7 and 5 cases were followed up. Among them, 2 cases were treated with moderate risk regimen and 3 cases were treated with 60% chemotherapy) according to the standard chemotherapy regimen. Follow up until October 2016, among them, 2 cases (40%) recurred and 3 cases (60%) survived. There was no statistical difference between the two groups (p 0.05). At the same time, the peripheral blood immature cells of the two groups were counted on the 8th day, and the bone marrow reexamination on the 15th day and the 33rd day, respectively. On the 15th day, the remission rate of bone marrow in children with Ph-like ALL was significantly lower than that in children without Ph-like ALL. The Ph-like ALL related gene detection kit (fluorescent RT-PCR method) was used to detect the gene expression profile of children and to screen out that Ph-like ALL is an effective and effective PH-like ALL, and the proportion of bone marrow primordial cells and infantile cells at the time of the disease. There was no significant difference between male and female patients with normal leukemia. The presence of 5Ph-like ALL in the JAK2 translocation of PH-like ALL gene in the pathogenesis of CommonB-ALL was an independent prognostic factor of ALL in children.
【学位授予单位】：南昌大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R733.71

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