【摘要】：目的：本研究通過(guò)檢測(cè)滑膜肉瘤X斷裂點(diǎn)基因(synovial sarcoma X breakpoint,SSX)家族中SSX1-5基因在兒童急性白血病(acute leukemia,AL)患者外周血單個(gè)核細(xì)胞中的表達(dá)情況及其與臨床特征之間的關(guān)系,初步探討其作為AL輔助診斷和監(jiān)測(cè)預(yù)后以及免疫治療可能性。 方法：87例兒童急性白血病患者作為實(shí)驗(yàn)組,其中45例初診患者為初診組；42例經(jīng)治療達(dá)完全緩解為完全緩解組；30例非惡性疾病及血液系統(tǒng)疾病兒童作為對(duì)照組。采用逆轉(zhuǎn)錄-聚合酶鏈反應(yīng)(reverse transcriptase polymerase chain reaction, RT-PCR)技術(shù),對(duì)各組中兒童外周血單個(gè)核細(xì)胞進(jìn)行SSX1-5mRNA表達(dá)的檢測(cè)。同時(shí)結(jié)合患者的臨床資料,對(duì)SSX1-5mRNA的表達(dá)與臨床特征(性別、年齡、診斷時(shí)外周血白細(xì)胞計(jì)數(shù)、FAB分型、臨床危險(xiǎn)度分型、免疫學(xué)分型)、完全緩解率、復(fù)發(fā)的關(guān)系進(jìn)行分析。 結(jié)果：(1)DNA測(cè)序證實(shí)PCR陽(yáng)性產(chǎn)物為目的基因。(2) SSX1-5基因的表達(dá)：45例初診組患者外周血中,SSX1-4基因的表達(dá)率分別為：60.0%(27/45)、17.8%(8/45)、31.1%(14/45)、8.9%(4/45),未檢測(cè)到SSX5基因的表達(dá)；至少表達(dá)1個(gè)SSX基因者達(dá)80.0%(36/45)；表達(dá)2個(gè)或2個(gè)以上者達(dá)28.9%(13/45)；表達(dá)3個(gè)達(dá)2.2%(1/45)。42例完全緩解組SSX1-5基因的表達(dá)率分別為：66.7%(28/42)、16.7%(7/42)、26.2%(11/42)、4.8%(2/42)、2.4%(1/42)；至少表達(dá)1個(gè)SSX基因者達(dá)85.7%(36/42)；表達(dá)2個(gè)或2個(gè)以上者達(dá)26.2%(11/42)；表達(dá)3個(gè)達(dá)4.8%(2/42)。30例對(duì)照組SSX1、3的表達(dá)率分別為16.7%(5/30)、6.7%(2/30),未檢測(cè)到SSX2、4、5基因的表達(dá)。以上的檢測(cè)結(jié)果經(jīng)統(tǒng)計(jì)學(xué)分析(SPSS13.0統(tǒng)計(jì)學(xué)分析軟件),其結(jié)果如下：①SSX1和SSX3基因在初診組與完全緩解組的表達(dá)率均明顯高于對(duì)照組(P0.05)；②SSX1-5基因在初診組和完全緩解組的表達(dá)率無(wú)明顯差異(P0.05。(3)SSX1-5基因在初診組ALL表達(dá)率與臨床特征的關(guān)系：SSX1mRNA在高危年齡組(≥10歲)表達(dá)率為100%(9/9)顯著高于在低危年齡組(1～10歲)的表達(dá)率為44%(11/25)。SSX2mRNA在外周血WBC計(jì)數(shù)≥50×109/L的患者表達(dá)率為66.7%(4/6)顯著高于在外周血WBC計(jì)數(shù)50×109/L的患者表達(dá)率14.3%(4/28)。SSX3mRNA在T-ALL的表達(dá)率為80%(4/5)顯著高于在B-ALL的表達(dá)率為20.7%(6/29)。(4)對(duì)初診組和完全緩解組隨訪發(fā)現(xiàn)：①SSX1-5基因在初診組的表達(dá)與完全緩解(completely remission, CR)率無(wú)關(guān),初診組的完全緩解率為97.8%；②SSX3基因在完全緩解組的表達(dá)與復(fù)發(fā)有關(guān)(P0.05) 結(jié)論：(1)SSX1-5基因在兒童AL中表達(dá)頻率不同,但SSX1和SSX3基因表達(dá)率較高,有可能成為兒童AL免疫治療的靶抗原。(2)對(duì)SSX1、2、3基因檢測(cè)對(duì)評(píng)估兒童ALL患者臨床治療效果、判斷預(yù)后有一定的臨床意義,特別是對(duì)SSX3基因檢測(cè)對(duì)于判斷AL預(yù)后有較強(qiáng)的指導(dǎo)意義。
[Abstract]:Objective: to investigate the role of SSX1-5 gene in (acute leukemia, of childhood acute leukemia by detecting the SSX1-5 gene in synovial sarcoma X breakpoint gene (synovial sarcoma X breakpoint,SSX) family. The expression of peripheral blood mononuclear cells (PBMC) in patients with AL and its relationship with clinical features were preliminarily discussed as an auxiliary diagnosis and monitoring of prognosis of AL and the possibility of immunotherapy. Methods: 87 children with acute leukemia were used as experimental group, among them 45 patients were first diagnosed group, 42 patients were treated to complete remission group, and 30 children with non-malignant diseases and hematological diseases were used as control group. Reverse transcription-polymerase chain reaction (reverse transcriptase polymerase chain reaction, RT-PCR) technique was used to detect the expression of SSX1-5mRNA in peripheral blood mononuclear cells (PBMC) of children in each group. At the same time, the expression and clinical characteristics of SSX1-5mRNA (sex, age, peripheral blood leukocyte count, FAB classification, clinical risk classification, immunological classification), complete remission rate, were analyzed in combination with the clinical data of the patients. The relationship between recurrence and recurrence was analyzed. Results: (1) DNA sequencing confirmed that the PCR positive product was the target gene. (2) the expression of SSX1-5 gene: the expression rate of SSX1-4 gene was 60.0% (27 / 45) in the peripheral blood of 45 newly diagnosed patients. SSX5 gene expression was not detected in 17. 8% (8 / 45), 31. 1% (14 / 45), 8. 9% (4 / 45); The expression of at least one SSX gene was 80.0% (36 / 45), and the expression of two or more SSX genes was 28.9% (13 / 45). The expression rates of SSX1-5 gene in 42 complete remission groups were 66.7% (28 / 42), 16.7% (7 / 42), 26.2% (11 / 42), 4.8% (2 / 42), respectively. 2.4% (1 / 42); The expression of at least one SSX gene was 85.7% (36 / 42), and the expression of two or more SSX genes was 26.2% (11 / 42). The expression rates of SSX1,3 were 16.7% (5 / 30) and 6.7% (2 / 30) in 30 controls, respectively. No SSX2,4,5 gene expression was detected. The results were as follows: the expression rate of 1SSX1 and SSX3 gene in the first diagnosis group and complete remission group were significantly higher than that in the control group (P0.05). There was no significant difference between the expression rate of 2SSX1-5 gene in the first visit group and the complete remission group (P0.05. (3) the relationship between the ALL expression rate of the SSX1-5 gene in the first visit group and the clinical characteristics: the expression rate of SSX1mRNA in the high-risk age group (鈮，

本文編號(hào)：2303871