婴幼儿血管瘤组织p53基因突变和c-Myc基因扩增分析  

The Analysis on p53 Gene Mutation and c-Myc Gene Amplification in Infantile Hemangioma

作　　者：王原[1,2] 靳耀锋[1] 王康敏[1] 孙润芹[1] 康安静[1] 强磊[1] 

机构地区：[1]西安交通大学医学院第二附属医院病理科,陕西西安710004 [2]陕西省人民医院病理科,陕西西安710068

出　　处：《中国皮肤性病学杂志》2009年第2期75-78,共4页The Chinese Journal of Dermatovenereology

基　　金：国家自然科学基金(N030170902)

摘　　要：目的探讨p53基因第4～6外显子突变及c-Myc基因扩增在婴幼儿血管瘤发生及发展中的作用。方法选择婴幼儿血管瘤组织25例,用聚合酶链反应-单链构象多态性(PCR-SSCP)筛选可能有p53基因外显子4～6突变的标本进行测序;运用聚合酶链反应-聚丙烯酰胺凝胶电泳(PCR-PAGE)银染色后条带成像分析法检测c-Myc基因扩增情况,并以10例成人血管瘤组织作对照。结果婴幼儿组14(56.00%)例有p53基因第4外显子错义突变,成人组有2 (20.00%)例,两组差异无显著性意义(P>0.05)。婴幼儿组1例第6外显子发现同义突变,第5外显子未发现突变。婴幼儿组16(64.00%)例有c-Myc基因扩增,成人组仅2(20.00%)例,差异有显著性意义(P<0.05)。p53基因第4外显子突变与c-Myc基因扩增呈正相关(γ_s'=0.43,P<0.05)。结论p53基因的突变可能参与了血管瘤组织的增生过程,c-Myc基因扩增可能参与了血管瘤组织增生和消退过程。在血管瘤发生、发展过程中,二者起协同作用,共同促进血管瘤组织的增生或诱导其凋亡。Objective To detect p53 gene mutations in exon 4 to 6 and c-Myc gene amplification in the tissues of infantile hemangioma. Methods 25 cases of infant hemangioma and 10 cases of adult hemangioma were obtained. Mutations in p53 gene exon 4 to 6 were identified by polymerase chain reaction based single-strand conformational polymorphism （PCR-SSCP） and subsequently conformed by DNA sequencing. Amplification of c-Myc gene was assessed by densitometry after polyacrylamide gel electrophoresis （PAGE） of the PCR products. Results The missense mutaion in p53 gene exon 4 were found in 14 of 25 cases infant Hemangiomas （56.00%） and the same mutation were found in 2 of 10 cases adult Hemangiomas （20.00%）. There was no significant difference between two groups （ P 〉 0.05 ）. 1 case in infant group had a samesense mutation in exon 6. Mutation in exon 5 was found in none of the studied cases. Amplification of c-Myc was found in 16 of 25 （64.00%） in infant group, and 2 of 10 （20.00%） in adult group. Statistical analysis showed significant difference between two groups （P 〈0.05 ）. In our study, p53 gene mutaions in exon 4 were positively correlated with c-Myc gene amplification （γs＇ = 0.43, P 〈 0.05）. Conclusion It indicates that the alteration of p53 gene may involve in the proliferation of bemangioma and c-Myc gene amplification may play certain role in the process of proliferation and regression of hemangioma. They have a synergistic effect in promoting proliferation or inducing apoptosis.

关 键 词：血管瘤 P53 c—Myc 基因突变 基因扩增 

分 类 号：R732.2[医药卫生—肿瘤]