慢性粒细胞白血病急变与p16及降钙素基因关系的研究

Relationship between blast crisis of chronic myeloid leukemias and abnormality of p16 and calcitonin genes

目的 探讨p16基因纯合缺失、降钙素基因 (CT基因 )高度甲基化与慢性粒细胞白血病(CML)急变之间的关系。方法 分别采用半定量多重PCR、半定量PCR检测了 2 0例正常人和 5 3例CML患者p16基因纯合缺失和CT基因高度甲基化。结果 在 5 3例CML中 ,慢性期组、急粒变组、急淋变组、混合细胞急变组 ,p16基因纯合缺失、CT基因高度甲基化的阳性率分别为 0 % (0 / 2 0 )、6 2 %(1/ 16 )、6 6 7(8/ 12 )、40 0 % (2 / 5 )和 10 0 (2 / 2 0 )、6 8 8% (11/ 16 )、16 7% (2 / 12 )、40 0 % (2 / 5 )。结论CML急淋变、急粒变分别与p16基因纯合缺失、CT基因高度甲基化存在密切关系 ,而混合细胞急变与两种基因同时异常有关。同时检测这两种基因异常 ,有助于预测CML早期发生急变。

Objective To study the relationship between homozygous deletions of p16 gene and calcitonin hypermethylation and chronic myeloid leukemia (CML) blast crisis. Methods Semiquantitative multiplex polymerase chain reaction (PCR) was used to detect homozygous deletions of p16 gene and semiquantitative PCR to detect calcitonin gene hypermethylation in 53 CML patients. Results In 53 CML patients, homozygous deletion of p16 gene was found in none of them in chronic phase, while in 6.3% (1/16) of them in myeloid blast crisis, 66.7% (8/12) in lymphoid blast crisis, and 2/5 (40%) in mixed cell blast crisis. Calcitonin gene hypermethylation was found in 10% (2/20), 68.8%(11/16), 16.7%(2/12), and 40% (2/5), respectively. Conclusion There is intimate relationship between homozygous deletions of p16 gene and CML in lymphoid blast crisis, between calcitonin gene hypermethylation and CML in myeloid blast crisis. Moreover, abnormality of both genes may be associated with mixed cell blast crisis in CML patients. Simultaneous detection of the two genes help early pickup CML patients in blast crisis. Subject