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近年来,细胞遗传学在血液病中发挥越来越重要的作用。急性淋巴细胞白血病(ALL)是一类以常染色体结构或数量改变为特征的恶性疾病。ALL最重要的染色体结构改变包括t(9;22)(q34;q11)、t(12;21)(p13;q22)、t(1;19)(q23;p13),形成BCR-ABL、TEL-AML1、E2A-PBX1融合基因。染色体数量异常包括超二倍体、假二倍体、亚二倍体/近单倍体。现就ALL的细胞遗传学改变,细胞遗传学改变与发病机制,细胞遗传学改变与预后的关系以及细胞遗传学指导治疗进行综述。
In recent years, cytogenetics has played an increasingly important role in blood diseases. Acute lymphoblastic leukemia (ALL) is a type of malignant disease characterized by changes in autosomal structure or quantity. The most important chromosomal structural changes of ALL include BCR-ABL, TEL (t; 12; 21) (p13; q22), t -AML1, E2A-PBX1 fusion gene. Chromosome abnormalities include hyperdiploid, pseudo-diploid, sub-diploid / near-haploid. Now on the ALL cytogenetic changes, cytogenetic changes and pathogenesis, cytogenetic changes and prognosis and cytogenetic therapy are reviewed.