急性红白血病骨髓细胞形态与染色体改变

Morphologic and cytogenetic characteristics of bone marrow cells erythroleukemia

目的探讨急性红白血病(EL)的骨髓细胞形态学及细胞遗传学特征。方法对12例EL进行回顾性总结。应用骨髓细胞短期培养法制备染色体标本,采用R显带技术进行染色体核型分析。结果12例EL多表现全血细胞减少,仅1例白细胞、血小板增高,骨髓粒、红、巨核多系有病态造血改变,巨核系的细胞发育不良指数(0.63)较粒系(0.17)和红系(0.20)明显增高(P<0.01)。上述EL患者中,异常核型检出率83%(10/12),其中6例为复杂核型,染色体受累以5、7和8号最常见(5、4、5例),其次为11、12号染色体(各3例)。在5例继发性EL中,4例染色体核型为涉及5、7号染色体长臂缺失的复杂异常;而在7例原发性EL中,2例染色体核型正常,另外5例多为涉及附加8号染色体的简单异常。结论EL以全血细胞减少及骨髓多系细胞病态造血常见,细胞遗传学表现为复杂和非特异的染色体核型异常。

Objective To investigate the morphologic and cytogenetic characteristics of the bone marrow cells erythroleukemia（EL）. Methods A retrospective study of 12 EL defined following the FAB classification was performed. Chromosome specimens were prepared by short-term culture of bone marrow cells and karyotype analysis were carried out using R-banding techniques. Reduits All except one cases revealed prominent pancytopenia and trilineage dysplasia of variable degree were present in bone marrow cells. White blood cell and platelet of one case increased. Megakaryotic dysplasia index was higher than that of dyserythropoiesis and dysgranulopoiesis （0.63,0.17,0.20 respectively,P 〈 0.01 ）. In all patients, clonal chromosomal abnormalities were found in 10 patients （ 83 % , 10/12 ）, 6 cases of them had complex karyotypes, abnormalities of chromosomes 5, 7 and 8 were the most frequently involved （5,4 and 5 times, respectively）, followed by chromosomes 11 and 12 （3 times each）. 4 of 5 secondary EL cases had complex karyotypes following with loss of all or part of the long arm（q） of chromosomes 5 and 7. Among the 7 primary EL cases, 2 showed normal karyotypes and the others more appeared minpr karyotypic abnormalities involving additional chromosomes 8. Conclusions Pancytopenia and trilineage dysplasia of bone marrow cells are significant in patients with EL. Chromosomal abnormalities of EL are revealed as complex and unspecific.