發(fā)布時間：2018-07-03 07:34

  本文選題：兒童急性淋巴細胞白血病 + 染色體核型分析　； 參考：《南昌大學》2012年碩士論文

【摘要】：目的： 分析兒童急性B淋巴細胞白血病(B-lineage acute lymphoblastic leukemia,B-ALL)TEL-AML1和BCR-ABL融合基因表達水平與患者的臨床特征、細胞遺傳學特征以及預后的關聯(lián)情況。方法： 收集2011年1月至2012年3月江西省兒童醫(yī)院血液科收治的93例初診兒童B-ALL患者骨髓標本,進行骨髓染色體G顯帶核型分析、流式細胞術免疫分型，，應用巢式PCR技術檢測TEL-AML1和BCR-ABL融合基因，對檢測結果陽性的標本采用熒光實時定量PCR進行融合基因定量檢測；并檢測首次誘導治療末（d33）融合基因表達量。 結果： 1、發(fā)病情況及臨床特征：運用巢式PCR技術檢測93例初診B-ALL患兒骨髓標本，發(fā)現(xiàn)17例TEL-AML1陽性，9例BCR-ABL陽性，陽性率分別為18.28%和9.68%。根據(jù)檢測結果將患者分為TEL-AML1陽性組、BCR-ABL陽性組和陰性組，三組間性別構成比、發(fā)病年齡、誘導治療期末CR率均無統(tǒng)計學差異。三組間白血病細胞髓外浸潤發(fā)生率、初診外周血白細胞計數(shù)及骨髓原幼細胞占有核細胞比例存在統(tǒng)計學差異。 2、染色體G顯帶核型分析結果示：TEL-AML1陽性組患者均未檢測到t(12;21)染色體易位，9例BCR-ABL融合基因陽性患者中有6例檢測到t(9;22)染色體易位；陰性組中檢測到2例t(8;14)染色體易位，其余未見染色體形態(tài)異常；三組間染色體超二倍體及亞二倍體比例無統(tǒng)計學差異，超二倍體以及亞二倍體患者在d33CR情況無統(tǒng)計學差異。 3、流式細胞術免疫分型結果示：三組患者CommonB-ALL比例分別為76.5%、44.4%、67.2%；PreB-ALL比例分別為23.5%、33.3%、25.4%；ProB-ALL比例分別為0、22.2%、7.5%；三組患者免疫分型構成比無統(tǒng)計學差異，TEL-AML1陽性組和BCR-ABL陽性組髓系抗原表達率高于陰性組。 4、RQ-PCR檢測結果示： TEL-AML1陽性組融合基因表達水平范圍2.01%~454.89%，BCR-ABL陽性組融合基因表達水平范圍2.94%~1208.62%；BCR-ABL融合基因表達水平高于TEL-AML1融合基因表達水平。在首次誘導治療末期（d33）TEL-AML1融合基因陽性組獲得14例骨髓標本中有5例MRD陽性；BCR-ABL陽性組7例標本中有3例MRD陽性。 結論: 1、本研究應用多重巢式RT-PCR檢測93例兒童B-ALL患者初診骨髓標本，檢測到TEL-AML1陽性14例和BCR-ABL融合基因陽性9例，陽性率分別為18.28%和9.68%；RQ-PCR的陽性檢出率與巢式PCR檢測結果一致，具有良好的臨床適用性； 2、TEL-AML1陽性患者與BCR-ABL陽性患者在短期預后上無明顯差異，但BCR-ABL陽性組初診時白血病細胞腫瘤負荷高于TEL-AML1陽性組和融合基因陰性組；
[Abstract]:Objective: to investigate the relationship between the expression of TEL-AML1 and BCR-ABL fusion genes in children with B-lineage acute lymphoblastic leukemia (B-ALL) and their clinical, cytogenetic and prognostic characteristics. Methods: from January 2011 to March 2012, the bone marrow samples of 93 newly diagnosed children with B-ALL were collected from Department of Hematology, Jiangxi Children's Hospital, and the karyotype of bone marrow chromosome G-banding was analyzed. The fusion genes of TEL-AML1 and BCR-ABL were detected by nested polymerase chain reaction (NPCR), the fusion genes were quantitatively detected by fluorescence real-time PCR and the expression of fusion genes was detected at the end of the first induction therapy (d33). Results: 1. The incidence and clinical characteristics: bone marrow specimens of 93 children with newly diagnosed B-ALL were detected by nested PCR. 17 cases (18.28%) were found to be positive for TEL-AML1 and 9 cases (9.68%) were positive for BCR-ABL. The patients were divided into BCR-ABL positive group and negative group according to the test results. There was no statistical difference among the three groups in sex composition, age of onset and CR rate at the end of induction therapy. The incidence of extramedullary infiltration of leukemic cells in the three groups, There were significant differences in the number of peripheral white blood cells and the percentage of nuclear cells occupied by bone marrow promyelocytes. 2. The karyotype analysis of chromosome G banding showed that no t (1221) chromosomal translocation was detected in 9 cases in the positive group of 10% TEL-AML1. In 6 patients with BCR-ABL fusion gene positive, t _ (9N _ 2) chromosome translocation was detected. In the negative group, 2 cases of t (8P14) chromosome translocation were detected, while the other cases were not abnormal in shape, and the proportion of hyperdiploid and subdiploid was not significantly different among the three groups. There was no statistical difference between hyperdiploid and subdiploid patients on d33CR. 3The results of flow cytometry showed that: the ratio of common B-ALL in the three groups was 76.50.The ratio of common B-ALL was 76.50.45%. The ratio of PreB-ALL to ProB-ALL was 23.533.33.35% ProB-ALL was 0.22.2mg / L and 7.5g / L, respectively. The expression rate of myeloid antigen in TEL-AML1 positive group and BCR-ABL positive group was higher than that in BCR-ABL positive group. 4 the results of RQ-PCR showed that the expression level of fusion gene in TEL-AML1 positive group was 2.01and 454.89% in BCR-ABL positive group. The expression level of synthase gene was 2.94 and 1208.62; The expression level of BCR-ABL fusion gene was higher than that of TEL-AML1 fusion gene. At the end of the first induction therapy (d33) TEL-AML1 fusion gene positive group, 5 of 14 bone marrow specimens were MRD positive and 3 of 7 cases were MRD positive. Conclusion: 1. In this study, the bone marrow specimens of 93 children with B-ALL were detected by multiplex nested RT-PCR. The positive rates of TEL-AML1 and BCR-ABL fusion gene were 18.28% and 9.68%, respectively. The positive rate of RQ-PCR was consistent with that of nested PCR, and had good clinical applicability, and there was no significant difference in short-term prognosis between patients with positive RQ-PCR and those with positive BCR-ABL. However, the tumor load of leukemic cells in BCR-ABL positive group was higher than that in TEL-AML1 positive group and fusion gene negative group.
【學位授予單位】：南昌大學
【學位級別】：碩士
【學位授予年份】：2012
【分類號】：R733.7

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