1058例急性非淋巴细胞白血病的细胞遗传学分析

Cytogenetic analysis on 1058 cases of acute nonlymphocytic leukemia

目的 评估我国大系列急性非淋巴细胞白血病 (acute nonlymphocytic leukemia,ANL L)的核型状况。方法 采用直接法和短期培养法制备骨髓细胞染色体 ,并以 R显带为主、G显带为辅对 10 5 8例初治的 ANL L患者进行染色体核型分析。结果 本组中 6 30例 (6 0 % )有克隆性染色体异常。主要异常核型共有 2 5种 ,其中 11种为特异性染色体重排 ,见于 481例 ,占核型异常患者总数的 76 %。单纯 +8(2 1例 )为常见的数目异常。t(15 ;17) (2 11例 )和 t(8;2 1) (2 0 0例 )为最常见的结构异常。1.1%的 M2 、72 %的 M3、71%的 M4E0 、5 0 %的 M2 、6 %的 M5 和 1.4%的 M2 分别有 t(7;11)、t(15 ;17)、inv(16 )、t(8;2 1)、t/ del(11q2 3)和t/ del(12 p)异常 ,而 10 0 %的 t(7;11)、10 0 %的 t(15 ;17)、10 0 %的 inv(16 )、88.5 %的 t(8;2 1)、83%的 t/ del(11q2 3)和 6 2 %的 t/ del(12 p)分别见于 M2 、M3、M4E0 、M2 、M5 和 M2 亚型患者。结论 联合应用 R带和 G带两种常规显带技术 ,6 0 %的 ANL L患者可检出克隆性染色体异常且主要为特异性染色体重排。它们和特定的 FAB亚型相关 ,因而核型是 ANL L

Objective: To evaluate the karyotypic status in a large series of acute nonlymphocytic leukemia(ANLL) cases. Methods: A total of 1058 cases of de novo ANLL were studied. Chromosome preparations were made on bone marrow cells using direct method and short-term culture. Karyotypes were analyzed by R-banding in all cases and G-banding in some cases in addition. Results: Six hundred and thirty cases (60%) had clonal chromosomal abnormalities. 25 categories of major karyotypic abnormalities were found. Among them, 11 were the specific chromosomal rearrangements seen in 481 cases, accounting for 76% of the total number of patients with karyotypic abnormalities. Isolate trisomy 8 (21 cases) was the most common numerical abnormality. t(15;17) (211 cases) and t(8;21) (200 cases) were the most frequent structural abnormalities. The 1.1% of M2, 72% of M3, 71% of M4EO, 50% of M2, 6% of M5 and 1.4% of M2 had t(7;11), t(15;17), inv(16), t(8;21), t/del(11q23) and t/del(12p) abnormalities, however, the 100% of t(7;11), 100% of t(15;17), 100% of inv(16), 88. 5% of t(8;21), 83% of t/del(11q23) and 62% of t/del(12p) were detected in patients with M2, M3, M4EO, M2, M5 and M2 subtypes, respectively. Conclusion: By conventional banding technique, including R- and G-bandings, 60% of patients with ANLL may be found to have clonal chromosomal abnormalities which are predominantly specific chromosomal rearrangements correlated with specific FAB subtypes. Thus, karyotype is an important indicator for diagnosis and classification of ANLL.