48例急性早幼粒细胞白血病的细胞遗传学研究

Cytogenetic study on 48 acute promyelocytic leukemia patients.

目的 探讨不同病期急性早幼粒细胞白血病 (APL)的细胞遗传学特点及意义。方法 随机选取 4 8例APL患者 ,采集新鲜骨髓 ,采用 2 4h预加秋水仙素的短期培养法制备染色体 ,应用G显带技术进行核型分析并照相。结果 本研究4 8例患者 (未缓解期 16例 ,复发期 3例 ,完全缓解期 2 9例 )中 ,具有染色体异常的有 2 8例 ,其中未缓解期 16例 (16 /16 ) ,复发期 3例 (3/3) ,完全缓解期 9例 (9/2 9)。异常类型以染色体易位和片段缺失比例较高 ,其中具有典型t(15 ;17)易位者 7例 ,为未缓解期或复发期患者 ;易位涉及 8q2 2者 5例。其中 ,同时具有t(15 ;17) ,t(8;2 1)易位 1例 ;同时具有t(5 ;8) ,t(15 ;17)易位 1例 ;t(5 ;8)易位 1例 ;t(8;17)易位 1例 ;以t(8;2 1)为基础的复杂易位 1例。具有 17q2 1-者 6例。结论 对白血病进行细胞遗传学研究不但具有十分重要的诊断和预后价值 ,而且能发现与疾病发生有关的新基因及涉及白血病转化和增殖的分子损伤位点。

Objective: To investigate the cytogenetic character of acute promyelocytic leukemia (APL) with different phases. Methods: Chromosome were extracted from bone marrow after short period incubation. G band technique was performed in karyotyping. Results: The distribution of 48 APL patients according to phases was as follows:16 non-recessive ,3 relapsed and 29 completely recessive(CR) patients. Abnormal chromosomes were observed in 28 patients, which included 16 non-recessive,3 relapsed and 9 CR patients. Chromosome translocation and deletion were frequently observed. There were 7 patients with typical t(15;17) in non-recessive or relapsed phases. Translocation involved in 8q22 was observed in 5 patients in which both t(15;17) and t(8;21) were observed in one patient, both t(5;8)and t(15;17) in one patient, t(5;8) in one patient, t(8;17) in one patient and a complicated translocation based on t(8;21) in one patient. Conclusion: Cytogenetic analysis on leukemia is of diagnosis and prognosis value, and it is may be possible to find new genes which are related with the pathogenesis, the transformation as well as proliferation of leukemia in molecular lever.