摘要
目的了解国内慢性粒细胞白血病（CML）不同病期染色体核型及其演变和ber—abl融合基因特点。方法对1193例CML患者的染色体核型及524例CML患者的ber-abl融合基因资料进行回顾性分析。染色体的检测采用R显带技术，融合基因检测采用RT-PCR技术。结果在所有病例中，Ph染色体阳性（Ph^＋）患者占98．07％，Ph^-患者占1．93％。在Ph^＋患者中，95．64％为典型Ph染色体阳性，4．36％为变异型Ph染色体阳性。11．88％的典型Ph^＋患者发生染色体核型演变。急变期、加速期和慢性期染色体核型演变的发生率分别为49．04％、27．78％及7．94％。在所有典型Ph^＋患者中，发生染色体核型演变后最常见的附加染色体异常类型为＋Ph（14．62％），＋8（10．77％）和-21（7．69％）。急变期和加速期最常见的附加染色体异常类型为＋Ph（28．57％），＋8（16．67％）和＋19（7．14％）；慢性期最常见的附加染色体异常为-21（10．26％），＋Ph（8．97％）和＋8（8．97％）。附加染色体异常联合出现类型以＋Ph与＋8的联合最多（3．60％）。在所有524例检测过融合基因的标本中，h3a2（＋）为54．01％，b2a2（＋）为27．67％。结论国内CML患者染色体的核型及演变可能有着自己的特点。
Objective To evaluate the cytogenetic and molecular genetic teatures ot chronic myelold leukemia （CML） in Chinese. Methods A total of 1193 CML patients were retrospectively studied. Chromo- some preparation of bone marrow cells was made using direct and short-term culture. Karyotype and bcr-abl fusion genes were analyzed by R-banding, RT-PCR, respectively. Results In the 1193 cases, 98.07% was Ph chronmsome positive （ Ph ^＋ ） and 1.93% negative（ Ph - ）. In the Ph ＋ patients, 95.64% was classical Ph and 4.36% variant rearrangements. Additional genetic changes were demonstrated in 11.88% of classical Ph cases. Cytogenetic clonal evolution was found in 7.94% of patients in chronic phase（ CP）, 27.78% in accelerated phase （AP）, and 49.04% in blast crisis（BC）. Among the classical Ph cases, ＋ Ph, ＋ 8, -21 were found in 14.62%, 10.77% and 7.69% of them respectively. In patients in BC and AP, the most common additional chromosome changes were ＋ Ph （28.57%）, ＋ 8 （16.67%） and ＋ 19 （7.14%）, while in CP, -21 （10.26%）, ＋Ph （8.97%）, and ＋8 （8.97%）. The combination of ＋Ph and ＋8 （3.60%） was the most frequent of combination pattern. 524 cases were investigated for bcr-abl fusion gene, and 54.01% was b3a2 （ ＋ ） and 27.67% b2a2 （ ＋ ）. Conclusion In Chinese CML patients seem to have their unique features in terms of cytogenetie clonal evalution.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2007年第1期1-5,共5页
Chinese Journal of Hematology
关键词
白血病
髓样
慢性
费城染色体
核型分析
Leukemia, myeloid, chronic
Philadelphia chromosome
Karyotyping
