The aim of this study was to determine whether the expression of CHK2 and p53 in tumor tissue in carriers of germlineCHEK2mutations can serve as a prognostic marker for PTC, and whetherCHEK2andTP53copy numbers correlates with the course of PTC disease. This study included 156 PTC patients previously tested for the presence ofCHEK2. Clinicopathological features, treatment response, disease outcome, and germline mutation status of theCHEK2gene were assessed with respect to CHK2 and p53 expression, andCHEK2andTP53gene copy statuses. In patients with and without a germline mutation inCHEK2and with higher CHK2 expression, the chances of an excellent treatment response and no evidence of disease were lower than in patients without or with lower CHK2 expression.TP53deletion was associated with angioinvasion. In patients with a truncating mutation, the chance of aCHEK2deletion was higher than in patients with WTCHEK2alone or those with WTCHEK2and with the missense I157T mutation. Higher CHK2 expression was associated with poorer treatment responses and disease outcomes. Higher CHK2 expression and positive p53 together with aTP53deletion could be a prognostic marker of unfavorable disease outcomes in patients with germline truncating mutations inCHEK2.
本研究旨在探讨胚系CHEK2突变携带者肿瘤组织中CHK2与p53的表达能否作为甲状腺乳头状癌（PTC）的预后标志物，以及CHEK2和TP53基因拷贝数是否与PTC病程相关。研究纳入156例既往接受过CHEK2检测的PTC患者，结合CHK2与p53表达水平及CHEK2和TP53基因拷贝状态，评估其临床病理特征、治疗反应、疾病转归及胚系CHEK2基因突变状态。结果显示：无论是否存在胚系CHEK2突变，CHK2高表达患者获得优异治疗反应及无疾病证据的概率均低于CHK2低表达或无表达患者；TP53缺失与血管侵犯相关；携带截短突变的患者出现CHEK2缺失的概率高于仅携带野生型CHEK2或同时携带野生型CHEK2与错义突变I157T的患者。CHK2高表达与较差的治疗反应及疾病转归相关。在胚系CHEK2截短突变患者中，CHK2高表达、p53阳性联合TP53缺失可能成为不良疾病转归的预后标志物。
肿瘤(癌症)患者之家