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目的探讨27例具有超二倍体的急性淋巴细胞白血病(ALL)患者的遗传学特点、免疫表型特点。方法常规R显带分析核型,三色流式细胞术检测免疫表型变化。结果在统计的77例儿童ALL核型中,高超二倍体17例(22%)。35例成人ALL核型中,高超二倍体2例(5.7%)。高超二倍体在儿童中的比例明显高于成人(P<0.05)。22例具有超二倍体的儿童ALL患者中,高超二倍体17例,16例+21。低超二倍体5例,伴有结构畸变3例。5例具有超二倍体的成人ALL患者中,4例有结构畸变。27例患者免疫表型检测均为B-ALL。4例伴有T淋系抗原表达(14.8%),25例伴有髓系抗原CD13表达(92.6%),其中19例同时表达CD13和CD34(70.4%)。6例复发患者中,4例为低超二倍体,2例为高超二倍体。3例伴CD20表达,2例伴T淋系表达。结论高超二倍体主要见于儿童BALL,以21号染色体增加最多见。具有超二倍体的ALL患者常伴髓系抗原CD13表达,且多和CD34同时表达。超二倍体及免疫表型与ALL的预后相关。
Objective To investigate the genetic characteristics and immunophenotypic features of 27 patients with hyper-diploid acute lymphoblastic leukemia (ALL). Methods Conventional R banding karyotype analysis, three-color flow cytometry immunophenotypic changes. Results Of the 77 children with ALL, karyotypes were highly diploid in 17 cases (22%). 35 cases of adult ALL karyotype, hyper diploid in 2 cases (5.7%). High diploid in children was significantly higher than the proportion of adults (P <0.05). Twenty-two cases of hyper-diploid children with ALL had hyper-diploid in 17 cases and 16 cases in +21. Low diploid in 5 cases, accompanied by structural distortion in 3 cases. Of 5 adult patients with diploid adult ALL, 4 had structural aberrations. The immunophenotypes of 27 patients were all B-ALL. 4 cases had T lymphoid antigen expression (14.8%), 25 cases had myeloid antigen CD13 expression (92.6%), of which 19 cases expressed CD13 and CD34 (70.4%) at the same time. Among the 6 recurrent patients, 4 were hyper-diploid and 2 were hyper-diploid. 3 cases with CD20 expression, 2 cases with T lymphocyte expression. Conclusions High Diploid mainly found in children BALL, the most common increase on chromosome 21. ALL patients with hyperdiploidy often have myeloid antigens CD13 expression, and more and CD34 expression. Hyperdiploid and immunophenotype correlated with the prognosis of ALL.