223例儿童白血病30种融合基因检测结果分析

目的通过对30种融合基因在儿童白血病中的结果分析,结合形态、免疫分型和细胞遗传学明确其在儿童白血病中的分布情况。方法选取2017年5月至2019年4月该院儿科223例初发或复发白血病肿瘤患儿作为研究对象,其中男124例,女99例,年龄1个月至14岁,采用实时荧光探针PCR进行融合基因检测,融合基因包括急性淋巴细胞白血病(ALL)和急性髓系白血病(AML)常见的如BCR-ABL1、AML1-ETO、CBFβ-MYH11、MLL和PML-RARα等30种融合基因。结果 223例患儿中诊断为B-ALL152例,T-ALL9例,AML49例,以及其他13例,包括B-NHL2例,T-NHL1例,混合型急性白血病1例,分类不明急性白血病2例,JMML1例,CML转AML1例,CML5例。30种融合基因筛查总阳性率为43.0%(96/223),其中B-ALL阳性率为32.2%(49/152),T-ALL阳性率为22.2%(2/9),AML阳性率为75.5%(37/49),其他病例阳性率为61.5%(8/13)。ALL中最常见的融合基因为TEL-AML1,占15.5%(25/161),BCR-ABL1占4.3%(7/161),E2A-PBX1占3.7%(6/161),其次为AML-MTG16,占1.9%(3/161),MLL-AF4占1.2%(2/161),MLL-AF10占1.2%(2/161),MLL-ENL占1.2%(2/161),TLS-ERG占1.2%(2/161),MLL-AF6占0.6%(1/161);AML中最常见的融合基因为AML1-ETO,占20.4%(10/49),PML-RARα占16.3%(8/49),CBFβ-MYH11占10.2%(5/49),DEK-CAN占6.1%(3/49),MLL-AF10占8.2%(4/49),其他包括MLL-AF4、MLL-AF9、MLL-AF1p、NPM-MLF、TEL-ABL、SET-CAN、BCR-ABL1各1例。结论白血病患儿白血病融合基因阳性率较高,加强对白血病30种融合基因的检测有助于提高儿童白血病的诊治水平。

Distribution characteristics of 30 fusion gene screening in the 223 children with acute leukemia

Objective To evaluate the diagnostic and significance of 30 fusion gene screening in combination with morphology,immunophenotyping and cytogenetics in children with hematologic neoplasms.Methods A total 223 children from Sun Yat-sen memorial hospital with acute leukemia newly or recurrently diagnosed from May.2017 to Apr.2019 were enrolled into this study.There were 126 males and 99 females,aged from 1 month to15 years old.Real-time fluorescent probe PCR assay was used for detection of 30 fusion genes including the common type of acute lymphoblastic leukemia(ALL)and acute myeloid leukemia(AML),such as BCRABL1,AML1-ETO,CBFβ-MYH11,MLL and PML-RARα.Results There were 152 cases children who were diagnosed as B-ALL,and 9 cases were diagnosed as T-ALL,49 cases were diagnosed as AML,the other 13 cases were diagnosis as following:2 cases were B-NHL,1 case were T-NHL,1 case was mixed leukemia,1 case was indeterminate leukemia,1 case was JMML,1 case was AML transformed from CML,5 cases were CML.Total positive rate of fusion gene was 43.0%(96/233),and which of the B-ALL and T-ALL were 32.2%(49/152)and 22.2%(2/9).In addition,positive rate of AML was 75.5%(37/49),which of the other types was61.5%(8/13).The most common positive fusion genes in ALL were as following:TEL-AML1,accounted for15.5%(25/161);BCR-ABL1,accounted for 4.3%(7/161);E2 A-PBX1,accounted for 3.7%(6/161);AMLMTG16,accounted for 1.9%(3/161);MLL-AF4,accounted for 1.2%(2/161);MLL-AF10,accounted for 1.2%(2/161);MLL-ENL,accounted for 1.2%(2/161);TLS-ERG,accounted for 1.2%(2/161);MLL-AF6,accounted for 0.6%(1/161).The most common positive fusion genes in AML was AML1-ETO,accounted for 20.4%(10/49);PML-RARα,accounted for 16.3%(8/49);CBFβ-MYH11,accounted for 10.2%(5/49);DEKCAN,accounted for 6.1%(3/49);MLL-AF10,accounted for 8.2%(4/49),the other genes included MLL-AF4(1 case),MLL-AF9(1 case),MLL-AF1p(1 case),NPM-MLF(1 case),EL-ABL(1 case),ET-CAN(1 case)and BCR-ABL1(1 case).Conclusion The positive rate of leukemia fusion gene is higher in children with leukemia.Strengthening the 30 kinds of fusion gene screening could help to evaluate the risk stratification and prognosis effectively.