【摘要】 目的:探讨t(8;21)急性髓系白血病(acute myeloid leukemia,AML)的遗传学特点。方法:回顾性分析浙江大学医学院第一附属医院血液科154例t(8;21)AML的遗传学、免疫学和分子生物学资料。为便于分析染色体核型与FAB分型的关系,把患者分为单纯t(8;21)组(69例)、单纯伴性染色体丢失组(54例)和其他附加染色体组(31例)。结果:按FAB分型:M2127例(82.5%)、M515例(9.7%)、M46例(3.9%)、M14例(2.6%)、M02例(1.3%);附加染色体异常85例(55.2%),其中-Y43例,占男性核型的44.1%;-X 17例,占女性核型的27.9%;9q-9例,占总例数5.8%;+8 5例,占3.4%,+4 3例,占2.0%;其他类型染色体异常17例,占11.4%;其他附加染色体异常组有非M2(M0、M1、M4、和M5)病例11例,占该组35.5%,高于单纯t(8;21)组的17.4%,差异有统计学意义(P<0.05);伴性单纯染色体丢失组有4例(7.4%),低于单纯t(8;21)组,差异无统计学意义(P>0.05)。结论:t(8;21)AML常伴有其他染色体异常,主要见于M2型,除性染色体丢失以外附加染色体异常更易见于非M2型AML。更多还原

【Abstract】 Objective: To investigate the cytogenetic features of acute myeloid leukemia(AML) with t(8;21).Methods: The clinical characteristics of 154 cases of acute myeloid leukemia with t(8;21) in our hospital were analyzed retrospectively.According to the chromosome karyotype,all cases were divided into three groups:the group without additional chromosome abnormality,the group with single sex chromosome loss and the group with additional chromosome abnormalities other than sex chromosome loss.Results: In this study,according to FAB classification,there were 127 cases of M2(82.5%),15 of M5(9.7%),6 of M4(3.9%),4 of M1(2.6%) and 2 of M0(1.3%).Cytogenetically,85(55.2%) AML patients with t(8;21) had additional chromosome abnormalities.The most common abnormalities were sex chromosome loss,of which-Y was detected in 44.1% of the male karyotype and X in 27.9%.Beside that,there were 9 cases of 9q-(5.8%),5 of +8(3.3%),3 of +4(2.0%) and 17 of other chromosome anomalies(11.4%).In the group of t(8;21) with additional chromosome abnormalities,11 cases(35.5%) were non-M2 AML,higher than that in single t(8;21) group(17.4%)(P<0.05);however,there was no significant difference between the group of single t(8;21) and the group of t(8;21) with single sex chromosome loss(P>0.05).Conclusion: t(8;21) translocation is usually companied by additional chromosome abnormalities,particularly in M2;while t(8;21) with additional chromosome abnormalities other than sex chromosome loss is more frequently observed in non-M2 AML.更多还原