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

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（χ2=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。

Analysis of the immunophenotype and cytogenetic features of initial diagnosis of 132 chil-dren with acute lymphoblastic leukemia

Objective:To study children with acute lymphoblastic leukemia(ALL)the immunophenotype and cyto-genetic 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 differ-ent types of immune patients(P > 0. 05). Conclusion:Children with ALL immunophenotype and cytogenetics has cer-tain characteristics,combined detection in the diagnosis of ALL and type has important value.