小儿急性淋巴细胞白血病p16基因缺失与临床特征相关性的研究  

The study on the association between p16 deletion and the clinical characteristics of childhood ALL

作　　者：李虹[1] 李锦云[1] 

机构地区：[1]北京医科大学人民医院儿科,北京100044

出　　处：《中国实验血液学杂志》1998年第4期273-276,共4页Journal of Experimental Hematology

摘　　要：p16基因异常与人类多种肿瘤的发生与发展有关。作者用PCR方法检测了42例小儿急性淋巴细胞白血病(ALL)p16基因3个外显子缺失状况,初步探讨了pl6基因缺失与小儿ALL的发病、临床表现及预后的相关性。结果表明,p16基因缺失在小儿ALL的发生率为40％,其中1例为exon1单一缺失。T-ALL中p16基因缺失为12/13(92％),远高于B-ALL,后者为5/22(23％),临床高危型ALL pl6基因缺失为17/19(89％),20例标危型ALL均未检测到p16基因缺失。实验证明,pl6基因缺失在小儿ALL(尤其是T-ALL)的发病过程中起重要作用。与临床的相关性研究表明,pl6基因缺失提示预后不良。Deletions of p16 gene have been frequently found in many human tumor types. In order to investigate the incidence of p16 gene deletion in childhood ALL and to determine the association between this gene deletion and the clinical characteristics of childhood ALL, the deletion of p16 gene was detected in 42 children with ALL by PCR analysis. Results showed; ① deletion of p16 gene was found in 17 out of 42 childhood ALL (40%). Only one patient showed the deletion of exon 1 but not exon 2 and exon 3; ② on phenotype analysis in 35 cases, p16 gene deletions were detected in 12 of 13 T-cell ALL (92%) and 5 of 22 B-cell ALL (23%). The frequency of the gene deletion in T-cell ALL was significantly higher than in B-cell ALL (P<0.001); ③ whereas none of 20 common-risk ALL showed p16 gene deletion, 17 of 19 high-risk ALL (89%) had the gene deletion (P< 0.001). These results suggested that the deletion of p16 gene may play an important role in leukemogenesis of childhood ALL, especially in T-cell ALL, and that the gene deletion seems to be in relation to a poor prognosis in childhood ALL.

关 键 词：急性淋巴细胞白血病 急性白血病 基因 P16基因 基因缺失 

分 类 号：R733.71[医药卫生—肿瘤]