CAJ | 학술논문

目的探讨儿童急性淋巴细胞白血病(ALL)常见遗传学异常及其与早期治疗反应的关系.方法应用染色体核型分析、多重巢式反转录聚合酶链反应(RT-PCR)和荧光原位杂交(FISH)技术对2010年12月至2011年12月首都医科大学附属北京儿童医院血液肿瘤中心收治的169例初诊ALL患儿进行遗传学检查,并观察遗传学异常与早期治疗反应的关系.结果 169例ALL患儿骨髓细胞标本培养成功162例,培养成功率95.9％,其中88例具有克隆性染色体异常,异常核型检出率为52.1％.接受RT-PCR检查的153例患儿中,55例检测出携带8种融合基因,异常检出率为35.9％.应用FISH技术对40例ALL患儿进行混合谱系白血病(MLL)基因重排检测,6例阳性.将常规细胞遗传学与RT-PCR和FISH结果联合分析,105例具有遗传学异常,使异常检出率提高到62.1％.将ALL患儿遗传学异常分为6个组:t(12;21)、t(1;19)、t(9;22)、MLL基因重排、超二倍体和-6/6q-及-7/7q-,6组遗传学异常在3种不同早期治疗反应中,即第8天泼尼松诱导试验、第33天骨髓和微小残留病的结果中,差异均具有明显的统计学意义(x2=22.954、19.432、14.045,P=0.001、0.001、0.016).结论常规细胞遗传学联合RT-PCR、FISH技术,可以提高儿童ALL遗传学异常的检出率,将遗传学异常与患儿早期治疗反应联合分析,可以更好地指导临床治疗,并进行预后评估.
목적 탐토인동급성림파세포백혈병(ALL)상견유전학이상급기여조기치료반응적관계.방법 응용염색체핵형분석、다중소식반전록취합매련반응(RT-PCR)화형광원위잡교(FISH)기술대2010년12월지2011년12월수도의과대학부속북경인동의원혈액종류중심수치적169례초진ALL환인진행유전학검사,병관찰유전학이상여조기치료반응적관계.결과 169례ALL환인골수세포표본배양성공162례,배양성공솔95.9％,기중88례구유극륭성염색체이상,이상핵형검출솔위52.1％.접수RT-PCR검사적153례환인중,55례검측출휴대8충융합기인,이상검출솔위35.9％.응용FISH기술대40례ALL환인진행혼합보계백혈병(MLL)기인중배검측,6례양성.장상규세포유전학여RT-PCR화FISH결과연합분석,105례구유유전학이상,사이상검출솔제고도62.1％.장ALL환인유전학이상분위6개조:t(12;21)、t(1;19)、t(9;22)、MLL기인중배、초이배체화-6/6q-급-7/7q-,6조유전학이상재3충불동조기치료반응중,즉제8천발니송유도시험、제33천골수화미소잔류병적결과중,차이균구유명현적통계학의의(x2=22.954、19.432、14.045,P=0.001、0.001、0.016).결론 상규세포유전학연합RT-PCR、FISH기술,가이제고인동ALL유전학이상적검출솔,장유전학이상여환인조기치료반응연합분석,가이경호지지도림상치료,병진행예후평고.
Objective To explore the common genetic abnormalities in childhood acute lymphoblastic leukemia(ALL) and their responses to early treatment response.Methods From December of 2010 to December of 2011,169 newly diagnosed ALL patients at the Department of Hematology,Beijing Children's Hospital Capital Medical University,were detected by karyotype analysis,reverse transcription polymerase chain reaction (RT-PCR) and fluorescent in situ hybridization (FISH),and the relationship between early treatment responses and genetic abnormalities was observed.Results Of the 169 cases,bone marrow cell specimens from 162 cases were successfully cultured,with the success rate reached to 95.9％,and 88 cases (52.1％) had chromosomal abnormalities.Fifty-five cases carried 8 types of fusion genes among the 153 patients who received RT-PCR examination,and the abnormal rate was 35.9％.Forty cases applied for the detection of mixed lineage leukemia (MLL) gene rearrangement by FISH,and 6 cases of them were positive.One hundred and five cases had genetic abnormalities and the detection rate reached to 62.1％ by using three combined methods.The genetic abnormalities were classified into 6 groups,they were t(12;21),t(1;19),t(9;22),MLL rearrangement,hyperdiploid and-6/6q-,-7/7q-respectively,and early therapy response in each group was compared,and statistically significant differences were found among 6 groups (x2 =22.954,19.432,14.045,P =0.001,0.001,0.016).Conclusions Conventional cytogenetics combined with RT-PCR and FISH can enhance the detection rate of genetic abnormalities in childhood ALL.Genetic abnormalities combined with early treatment response in ALL can better guide the clinical treatment and prognosis assessment.