362例慢性髓系白血病的细胞遗传学分析

Cytogenetic Analysis of 362 Cases of Chronic Myeloid Leukemia

为探讨慢性髓系白血病(CML)的细胞遗传学特点及临床意义,对362例CML患者采用24小时短期培养法制备骨髓染色体,用R显带技术进行染色体核型分析。将患者分为慢性期和急变期两组。结果表明:附加染色体异常、变异易位、Ph(-)bcr/ab l(+)并伴有染色体异常者在两组中的比例分别为:70/268(26.1%)、19/268(7.1%)、4/268(1.5%);50/94(53.2%)、8/94(8.5%)、4/94、(4.3%)。362例标本中检出Ph阳性标本324例(89.5%),其中典型t(9;22)(q34;q11)易位297例(91.7%),变异易位27例(8.3%)。在27例变异易位中单纯变异易位13例,复杂变异易位13例,隐匿Ph 1例。362例标本中共发现120例特殊核型异常。对上述异常分析显示,出现频率较高的数目异常有:+Ph:26例(21.7%);+8:12例(10.0%);+21:12例(10.0%);+19:9例(7.5%)。结构异常中以i(17q)最多,有16例(13.3%)。结论:与慢性期相比,急变期附加染色体、变异易位等异常率均明显增加,染色体核型分析有助于疾病进展的判断。

In order to evaluate the cytogenetic features and clinical significance of chronic myeloid leukemia （CML）, chromosome preparation of bone marrow cells was made by using 24-hour culture, and R-banding technique was employed for karyotyping in 362 patients with CML. The patients were divided into two groups of chronic phase （CP） and blast crisis （BC）. The results showed that the incidence of additional chromosome, variant translocation and Philadelphia （Ph） negative, bcr/abl positive CML with abnormal chromosomes in CP group were 70 cases （26.1%）, 19 cases （7.1%）, 4 cases （1,5%） , and were 50 cases （53.2%）, 8 cases （8.5%）, 4 cases （4.3%） in BC group. Among the 362 cases, 324 cases （89.5%） were Ph positive. Classic translocation was found in 297 cases （91.7%） and variant translocation in 27 cases （8.3%）, including 13 cases of simple variant, 13 cases of complex variant and 1 case of marked Ph. Special karyotypes were found in 120 out of 362 cases. Analysis of these karyotypes demonstrated that the most common numerical abnormalities were ＋ Ph （21.7%）, ＋ 8 （ 10.0% ）, ＋ 21 （ 10.0% ）, ＋ 19（7.5% ） and structure abnormalities were i（17q） （ 13.3% ）. In conclusion, compared to chronic phase, the incidence of additional chromosome, variant translocation and so on are much higher at in blast crisis. It is feasible to evaluate the progress of the disease by karyotype analysis.