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目的:检测骨肉瘤组织中人第10号染色体缺失的磷酸酶及张力蛋白同源的基因(PTEN)启动子特定区域的甲基化状态,初步探索PTEN在骨肉瘤发生、发展中的作用。方法:应用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF MS)方法,检测并分析32例骨肉瘤患者的病理组织中及17名正常对照者的外周血中抑癌基因PTEN启动子003区域CpG岛的甲基化状态。结果:骨肉瘤好发于股骨远端(20.9%)、胫骨近端(20.9%)和肱骨远端(16.3%)。骨肉瘤组织中抑癌基因PTEN启动子003区域CpG_1、CpG_3.4、CpG_9、CpG_11.12,CpG_13和CpG_18.19.20的甲基化率高于其在正常人外周血样中的甲基化率(P<0.05)。结论:PTEN基因启动子高甲基化导致的PTEN基因失活可能参与了骨肉瘤的发生、发展。
OBJECTIVE: To detect the methylation status of PTEN promoter in human osteosarcoma tissue, and to explore the role of PTEN in the occurrence and development of osteosarcoma. Methods: MALDI-TOF MS was used to detect and analyze the tumor suppressor gene PTEN promoter 003 region CpG in 32 cases of osteosarcoma and 17 normal controls Island methylation status. Results: Osteosarcoma developed mainly in the distal femur (20.9%), proximal tibia (20.9%) and distal humerus (16.3%). The methylation rate of CpG_1, CpG_3.4, CpG_9, CpG_11.12, CpG_13 and CpG_18.19.20 in tumor suppressor gene PTEN promoter region in osteosarcoma tissue is higher than that in normal human peripheral blood samples (P <0.05). Conclusion: Inactivation of PTEN gene induced by PTEN gene hypermethylation may be involved in the development of osteosarcoma.