132例初发儿童急性淋巴细胞白血病免疫表型及细胞遗传学特征分析

Analysis of the immunophenotype and cytogenetic features of initial diagnosis of 132 children with acute lymphoblastic leukemia

目的：探讨儿童急性淋巴细胞白血病（ALL）的免疫表型及细胞遗传学特征，为其诊断及治疗提供依据。方法：采用多参数流式细胞术（FCM）对132例初发儿童 ALL 患者进行免疫表型分析，并应用荧光原位杂交（FISH）技术检测其细胞遗传学特点。结果：132例 ALL 患者中，12.9%（17/132）为 T 淋巴细胞急性淋巴细胞白血病（T - ALL），87.1%（115/132）为 B 淋巴细胞急性淋巴细胞白血病（B - ALL）。46.2%（56/132）的ALL 患者表达髓系抗原，CD13是 ALL 中最常见的髓系抗原，其阳性率为28.0%。T - ALL 髓系相关抗原表达阳性率为47.1%，与 B - ALL 的46.1%比较，差异无统计学意义（χ^2=0.006，P =0.940）。可供核型分析的96例 ALL 中，核型异常者50例（52.1%），其中染色体数目异常26例，染色体结构异常24例。96例 ALL 患者中，TEL/ AML1融合基因阳性21例（21.8%），BCR/ ABL 融合基因阳性14例（14.6%），TCF3/ PBX1融合基因阳性5例（5.2%），MLL 重排3例（3.1%）。对不同免疫分型患者细胞遗传学异常检出率进行比较，差异均无统计学意义（P 〉0.05）。结论：儿童 ALL 免疫表型和细胞遗传学具有一定的特点，两者联合检测对 ALL 的诊断及分型具有重要的价值。

Objective：To study children with acute lymphoblastic leukemia（ALL）the immunophenotype and cytogenetic features. Methods：Flow cytometry（FCM）was performed to analyze the immunophenotype in 132 children with ALL,and fluorescence in situ hybridization（FISH）technique to detect the cytogenetic characteristics. Results：In 132 ALL patients,there were 12. 9%（17 / 132）of T cell acute lymphoblastic leukemia（T - ALL）,and 87. 1%（115 / 132） of B cell acute lymphoblastic leukemia（B - ALL）. 46. 2%（61 / 132）ALL patients expressed myeloid antigen,CD13 was the most common myeloid antigen in ALL,the positive rate was 28. 0% . Comparison of T - ALL positive rate （47. 1% ）and B - ALL positive rate（46. 1% ）of myeloid related antigen expression,the difference was not statistically significant（P = 0. 940）. Among 96 cases of ALL,50 cases（52. 1% ）with abnormal karyotype,26 cases with abnormal chromosome numbers and 24 cases with abnormal chromosome structure. Among these 96 ALL cases TEL/ AML1, BCR/ ABL,TCF3/PBX1 and MLL fusion genes were observed in21（21. 8% ）,14（14. 6% ）,5（5. 2% ）and 3（3. 1% ） cases,respectively. There was no significant difference in the detection rate of cytogenetic abnormalities among different types of immune patients（P 〉 0. 05）. Conclusion：Children with ALL immunophenotype and cytogenetics has certain characteristics,combined detection in the diagnosis of ALL and type has important value.