乳腺癌中 PALB2基因启动子甲基化情况及其临床预后价值

摘要

[Objective] PALB2 has been identified as a possible susceptibility gene for breast cancer .And mutation of PALB2 is associated with a high risk of breast cancer .The present study was intended to examine promoter methylation of PALB2 in breast cancer and its relationship with clinicopathological parameters and prognostic value .[Methods] MSP (methylation‐specific PCR) was used to detect the promoter methylation of PLAB2 in paraffin‐embedded breast cancer tissues from 128 cases of breast cancer .Then the relationship be‐tween promoter methylation of PALB2 in breast cancer and clinical prognosis were analyzed .[Results]Among them ,14 .03% of breast cancer patient with lymph node metastasis had promoter methylation of PALB 2 .And it was higher than those without lymph node metastasis (2 .82% ,P =0 .018) .The mean disease‐free survival time and overall survival time of PALB2 promoter methylated patient were 50 and 51 .5 months while those without PALB2 promoter methylation 54 and 88 months respectively .And the differences were statistically significant ( P=0 .003 ,P=0 .003) .N stage and promoter methylation of PALB2 were independent prognos‐tic factors for breast cancer .[Conclusion] The promoter methylation of PALB2 in breast cancer tissue is asso‐ciated with lymph node metastasis .Compared with non‐methylation group ,the patients with promoter methyl‐ation of PALB2 have a lower survival rate .Promoter methylation of PALB2 is an independent prognostic factor in breast cancer patients .%【目的】探讨乳腺癌易感基因PALB2启动子甲基化与乳腺癌临床病理特征、预后的关系。【方法】采用MSP法检测128例乳腺癌石蜡组织中PALB2启动子甲基化情况，分析其与乳腺癌临床病理特征及临床预后的相关性。【结果】128例乳腺癌中有淋巴结转移的患者中14．04％（8／57）检测出PALB2启动子甲基化，高于无淋巴结转移患者的2．82％（2／71），且差异具有显著性（ P ＜0．05）。PALB2启动子甲基化组的中位无瘤生存时间与中位总生存时间分别为50个月和51．5个月，无甲基化组的中位无瘤生存时间与总生存时间分别为54个月和88个月，两者相比较差异均具有显著性（ P ＜0．01）。乳腺癌患者预后相关因素分析提示N分期及PALB2启动子甲基化情况均是影响乳腺癌患者预后的独立危险因素。【结论】乳腺癌组织PALB2基因启动子甲基化情况与是否有淋巴结转移相关。与PALB2启动子无甲基化组比较，有甲基化组乳腺癌患者的预后更差。PALB2启动子甲基化作为影响乳腺癌患者预后的独立危险因素，对于评估患者临床预后有着重要意义。