本文選題：Ph樣急性淋巴細(xì)胞白血病 + 基因表達(dá)��； 參考：《南昌大學(xué)》2017年碩士論文

【摘要】：目的:通過檢測分析ALL(acute lymphoblastic leukemia,ALL)患兒的基因表達(dá)譜,篩選出Ph-like ALL,分析其基因表達(dá)、臨床特征及預(yù)后,旨在探索建立Ph-like ALL診斷方法,發(fā)現(xiàn)其基因表達(dá)及臨床特點,為進(jìn)行精準(zhǔn)分層和制定個體化治療方案提供依據(jù)。方法:收集2013年2月-2014年6月在我院診斷的150名ALL患兒作為研究對象,在患者及監(jiān)護(hù)人知情同意下,采集骨髓細(xì)胞進(jìn)行檢測,所有病例符合MICM分型診斷標(biāo)準(zhǔn)。根據(jù)納入及排除標(biāo)準(zhǔn),共計20例患兒入組。對所有入組患兒使用Ph-like ALL相關(guān)融合基因檢測試劑盒進(jìn)行基因表達(dá)譜檢測,根據(jù)檢測結(jié)果將患者分為陽性組和陰性組,記錄兩組患兒的臨床特征、細(xì)胞遺傳學(xué)及分子遺傳學(xué)特點、免疫分型、治療反應(yīng)及預(yù)后,對比兩組間的差異。結(jié)果:2.1臨床特征:2.1.1:年齡:5例陽性患兒年齡8.01±3.04歲,15例陰性組患兒年齡4.59±2.24歲,兩組試驗數(shù)據(jù)統(tǒng)計學(xué)上存在差異(p0.05);2.1.2性別:5例陽性患兒中男3例,女2例;15例陰性患兒男8例,女7例,兩組試驗數(shù)據(jù)統(tǒng)計學(xué)上無明顯差異(p0.05);2.2血常規(guī):5例陽性患兒初治時白細(xì)胞波動在(128.61±232.11)*109/L,陰性組患兒白細(xì)胞波動在(27.94±40.25)*109/L;陽性組血紅蛋白波動在(61.50±17.13)g/L,陰性組血紅蛋白波動在(78.47±27.48)g/L;陽性組血小板波動在(88.16±101.08)*109/L,陰性組血小板波動在(67.84±56.60)*109/L;兩組試驗數(shù)據(jù)統(tǒng)計學(xué)上無明顯差異(p0.05)。2.3初診時骨髓原始及幼稚細(xì)胞比例:陽性組骨髓原始及幼稚細(xì)胞比例波動在78.53%±13.95%,陰性組骨髓原始及幼稚細(xì)胞比例波動在73.43%±18.09%,;兩組試驗數(shù)據(jù)統(tǒng)計學(xué)上無明顯差異(p0.05);2.4染色體核型:所有患兒均行染色體核型檢查,5例陽性患兒均無異常染色體核型;2.5基因檢測結(jié)果:本組共入組20例ALL患兒,Ph-like ALL相關(guān)基因檢測陽性5例,PAX5-JAK2 2例,ETV6-JAK2 1例,TPR-JAK2 1例,IK6陽性1例;2.6免疫分型本組病例全部進(jìn)行了免疫表型分析,5例陽性患兒中4例為B淋系抗原表達(dá)(80%),1例為T系表達(dá)(20%);其中3例為CommonB-ALL,1例為PreB-ALL。2.7治療及隨訪情況5例陽性患兒其中2例(40%)按中危方案執(zhí)行化療,3例(60%)按標(biāo)危方案化療,隨訪至2016年10月,其中2例(40%)復(fù)發(fā),3例(60%)存活,與對照組相比統(tǒng)計學(xué)上無明顯差異(p0.05);同時分別統(tǒng)計兩組第8天外周血幼稚細(xì)胞,第15天及第33天骨髓復(fù)查情況,第15天骨髓緩解率Ph-like ALL患兒明顯較非Ph-like ALL低,兩組試驗數(shù)據(jù)統(tǒng)計學(xué)上存在差異(p0.05);結(jié)論:l?通過Ph-like ALL相關(guān)基因檢測試劑盒(熒光RT-PCR法)檢測患兒基因表達(dá)譜并篩選出Ph-like ALL是行之有效的;2、Ph-like ALL患兒發(fā)病年齡大;在發(fā)病時骨髓原始及幼稚細(xì)胞比例、性別與普通白血病無明顯差異;3、Ph-like ALL更多在CommonB-ALL發(fā)病;4、Ph-like ALL基因表達(dá)JAK2易位多見;5、Ph-like ALL的存在是兒童ALL的獨立預(yù)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 鹵3.04 years old and 15 cases of negative group were 4.59 鹵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 鹵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 鹵40.25 / 109 / L, the hemoglobin in the positive group fluctuated at 61.50 鹵17.13g / L, the hemoglobin in the negative group was 78.47 鹵27.48g / L, and the positive group in the negative group was 78.47 鹵27.48g / L / L, respectively. The platelet fluctuation of sex group was 88.16 鹵101.08 / L, and that of negative group was 67.84 鹵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% 鹵13.95%), and the ratio of bone marrow primordial and immature cells in the positive group was 78.53% 鹵13.95%, and the ratio of bone marrow primordial and immature cells in the positive group was 78.53% 鹵13.95%. The proportion of bone marrow primordial and infantile cells fluctuated in 73.43% 鹵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.
【學(xué)位授予單位】：南昌大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R733.71

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