Objective: To observe the detection of fusion gene in children with acute lymphoblastic leukemia (ALL) of different immunophenotypes, and analyze the relationship between fusion gene and prognosis.
Methods: The clinical data of 86 children with ALL treated in the hospital from May 2015 to May 2020 were retrospectively analyzed, the immunophenotypes and the prognosis of children were recorded, the detection of fusion gene in ALL children with different immunophenotypes was compared, the relationship between detection of fusion gene and prognosis was analyzed.
Results: The results of bone marrow immunophenotype showed that there were 13 cases of T cell type and 73 cases of B cell type in 86 children with ALL. The detection rate of fusion gene SIL-TAL1 in ALL children with T cell type was significantly higher than that in ALL children with B cell type (P<0.05). The detection rates of fusion genes BCR-ABL1, E2A-PBX1 and TEL-AML1 in ALL children with B cell type were higher than those in ALL children with T cell type, but the differences were not statistically significant (P>0.05). Followed up for 8-12 months, recurrence was taken as the end point, the average follow-up time was (10.14±1.75) months, in 86 children with ALL 15 cases recurred (17.44%). The recurrence curve drawn by Kaplan-Meier method showed that the median recurrence time of 15 children with recurrent ALL was 9 months. The proportions of positive minimal residual disease and extramedullary infiltration in the poor prognosis group were higher than those in the good prognosis group, and the differences were statistically significant (P<0.05). The detection rates of fusion genes BCR-ABL and SIL-TAL1 in the poor prognosis group were higher than those in the good prognosis group, and the differences were statistically significant (all P<0.05). Logistic regression analysis showed that positive minimal residual lesions, extramedullary infiltration, and detection of fusion genes BCR-ABL and SIL-TAL1 were risk factors for poor prognosis in children with ALL (OR>1, P<0.05). The ROC curve analysis showed that the area under the curve (AUC) of combined detection of fusion gene BCR-ABL and SIL-TAL1 for predicting the poor prognosis of ALL children was >0.707, which had a certain predictive value.
Conclusion: There are differences in fusion genes among ALL children with different immunophenotypes, minimal residual disease, extramedullary infiltration, and fusion gene are associated with prognosis of ALL children. Fusion gene detection can be used as new method to predict the prognosis of children with ALL.
题目: 不同免疫分型急性淋巴细胞白血病患儿融合基因检测及预后分析.
目的: 观察不同免疫分型急性淋巴细胞白血病（ALL）患儿的融合基因检出情况，并分析融合基因与预后的关系.
方法: 回顾性分析本院2015年5月-2020年5月收治的86例ALL患儿的临床资料，记录患儿免疫分型及预后情况，比较不同免疫分型患儿的融合基因检出情况，并分析融合基因检测与预后的关系.
结果: 骨髓免疫分型结果显示，86例ALL患儿中有13例T细胞型，73例B细胞型。T细胞型患儿融合基因SIL-TAL1的检出率明显高于B细胞型患儿（P<0.05）。B细胞型患儿融合基因BCR-ABL1、E2A-PBX1、TEL-AML1的检出率高于T细胞型患儿，但差异无统计学意义（P>0.05）。随访8-12个月，以复发为终点事件，平均随访时间为(10.14±1.75)个月，86例ALL患儿中15例复发（17.44%），经Kaplan-Meier法绘制复发曲线显示，15例复发患儿的中位复发时间为9个月。预后不良组患儿微小残留病阳性、有髓外浸润占比均高于预后良好组，比较差异有统计学意义（均P<0.05）；预后不良组患儿融合基因BCR-ABL及SIL-TAL1的检出率高于预后良好组，比较差异有统计学意义（P<0.05）。Logistic回归分析结果显示，微小残留病阳性、有髓外浸润、检出融合基因BCR-ABL及SIL-TAL1是ALL患儿预后不良的危险因素（OR>1，P<0.05）。ROC曲线结果显示，融合基因BCR-ABL及SIL-TAL1检出联合预测ALL患儿预后不良的曲线下面积>0.707，有一定的预测价值.
结论: 不同免疫分型的ALL患儿融合基因存在差异，微小残留病、髓外浸润、融合基因均与患儿预后有关，检测融合基因可作为预测患儿预后的新手段.
Keywords: acute lymphoblastic leukemia; extramedullary infiltration; fusion gene; immunophenotype; prognosis.