CAJ | 학술논문

[目的] 探讨联合应用多重巢式反转录聚合酶链反应( RT-PCR)技术和染色体核型分析对急性淋巴细胞白血病(ALL)常见融合基因的表达和克隆性染色体异常的检出情况.[方法] 采用多重巢式RT-PCR技术对189例ALL患者进行检测,同时进行染色体R或G显带.[结果] 189例ALL患者中69例(36.5％)检出10种融合基因(E2A-PBX1 、TEL-AML1、ber-ab1、MLL-AF4、MLL-AF6、MLL-AF9、MLL-AF10、MLL-ELL、SIL-TAL1、TLS-ERG),染色体R或G显带可供分析的152例中,86例(56.6％)检出染色体结构和数目异常；二者联合可使ALL克隆性染色体异常检出率增至69.3％(131例).90例成年ALL患者中33例(36.7％)检测阳性,其中bcr-ab122例,未见TEL-AML1,99例儿童ALL患者中阳性36例(36.4％),其中TEL-AML1 24例,bcr-ab1 2例.成年人组与儿童组bcr-ab1 、TEL-AML1的表达率差异有统计学意义(均P＜ 0.01).MLL相关融合基因、E2A-PBX1 、SIL-TAL1 、TLS-ERG等表达率差异无统计学意义(均P＞ 0.05).66例正常核型的ALL患者检测出有bcr-ab1 、TEL-AML1融合基因的存在.[结论]成年人和儿童ALL融合基因表达各有侧重,多重巢式RT-PCR可用于初诊时染色体畸变的筛选,可在核型正常的ALL患者中检出隐匿的染色体易位,提供与预后相关的重要信息.
[목적] 탐토연합응용다중소식반전록취합매련반응( RT-PCR)기술화염색체핵형분석대급성림파세포백혈병(ALL)상견융합기인적표체화극륭성염색체이상적검출정황.[방법] 채용다중소식RT-PCR기술대189례ALL환자진행검측,동시진행염색체R혹G현대.[결과] 189례ALL환자중69례(36.5％)검출10충융합기인(E2A-PBX1 、TEL-AML1、ber-ab1、MLL-AF4、MLL-AF6、MLL-AF9、MLL-AF10、MLL-ELL、SIL-TAL1、TLS-ERG),염색체R혹G현대가공분석적152례중,86례(56.6％)검출염색체결구화수목이상；이자연합가사ALL극륭성염색체이상검출솔증지69.3％(131례).90례성년ALL환자중33례(36.7％)검측양성,기중bcr-ab122례,미견TEL-AML1,99례인동ALL환자중양성36례(36.4％),기중TEL-AML1 24례,bcr-ab1 2례.성년인조여인동조bcr-ab1 、TEL-AML1적표체솔차이유통계학의의(균P＜ 0.01).MLL상관융합기인、E2A-PBX1 、SIL-TAL1 、TLS-ERG등표체솔차이무통계학의의(균P＞ 0.05).66례정상핵형적ALL환자검측출유bcr-ab1 、TEL-AML1융합기인적존재.[결론]성년인화인동ALL융합기인표체각유측중,다중소식RT-PCR가용우초진시염색체기변적사선,가재핵형정상적ALL환자중검출은닉적염색체역위,제공여예후상관적중요신식.
[Objective] To investigate combined application of multiplex reverse transcription-polymerase chain reaction (mRT-PCR) and karyotype analysis detect of clonal chromosomal aberrations in acute lymphoblasfic leukemia (ALL),and explore the expression of common fusion genes.Methods 189 ALL patients were examined by multiplex RT-PCR and R or G banding techniques.[Results]10 fusion genes were detected in 69 out of 189 ALL patients(36.5％),including E2A/PBX1,TEL/AML1,BCR/ABL,MLL/AF4,MLL/AF6、MLL/AF9,MLL/AF10,MLL/ELL,SIL/TAL1,TLS/ERG.R or G banding techniques could find chromosome structural and numeracy abnormalities in 86 out of 152 patients (56.6％) available for analysis.Combination of mRT-PCR and R or G banding could raise the rate of detecting clonal chromosomal abnormalities to 69.3％.Fusion genes were detected in 33 out of 90 (36.7％) patients with adult ALL and 36out of 99 (36.4 ％) patients with children ALL,there were 22 patients with positive BCR/ABL but no TEL/AML1 in adult ALL group,while there were 24 patients with positive TEL/AML.1 and 2 with positive BCR/ABL in children ALL group.There was significant statistical difference for the expression of RCR/ABL and TEL/AML1 between adult ALL and children ALL (P＜0.01),but no difference for MLL related fusion gene,E2A/PBX1,SIL/TAL1 and TLS/ERG(P＞0.05).BCR/ABL and TEL/AML1 fusion gene could be detected in 66 ALL patients with normal karyotype (36.3％).[Conclusion]There were different biological characteristics between adults and children with ALL.mRT-PCR technique can quickly screen chromosome structural aberrations in patients with newly diagnosed leukemia.It is useful in detection of fusion genes in ALL with normal karyotypes and it would refine the karyotype analysis and provide imrootramt prognosis-relevant information.