Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.
Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), 4200-135 Porto, Portugal.
Genes (Basel). 2020 Jul 6;11(7):751. doi: 10.3390/genes11070751.
is considered the most commonly-altered gene in cutaneous squamous cell carcinoma (cSCC). Conversely, mutations have been reported in a low percentage of cSCC. The objective of our study was to evaluate the frequency of p53 expression and mutations in cSCC and correlate them with clinicopathological features and patient outcome. We performed immunohistochemistry for p53 and genetic profiling for mutations in a retrospective series of cSCC. The predictive value of p53 expression, mutations, and clinicopathological parameters was assessed using logistic regression models. The overall frequency of mutations was 9.3% (15/162), and 82.1% of the cases (133/162) had p53 overexpression. mutations rate was 3.2% (1/31) of in situ cSCCs and 10.7% (14/131) of invasive cSCCs. mutations were more frequently associated with an infiltrative than an expansive pattern of invasion ( = 0.046). p53 overexpression was a predictor of recurrence in the univariate analysis. Our results indicate that mutations associate with features of local aggressiveness. Larger studies with more recurrent and metastatic cSCCs are necessary to further address the prognostic significance of p53 overexpression in patients' risk stratification.
被认为是皮肤鳞状细胞癌(cSCC)中最常改变的基因。相反,已报道在低比例的 cSCC 中存在 突变。我们的研究目的是评估 p53 表达和 cSCC 中 突变的频率,并将其与临床病理特征和患者预后相关联。我们对 cSCC 的回顾性系列进行了 p53 免疫组织化学和 突变基因谱分析。使用逻辑回归模型评估了 p53 表达、 突变和临床病理参数的预测价值。总的 突变频率为 9.3%(15/162),82.1%的病例(133/162)存在 p53 过表达。原位 cSCC 的 突变率为 3.2%(1/31),侵袭性 cSCC 的 突变率为 10.7%(14/131)。 突变与浸润性而不是扩展性侵袭模式更相关(=0.046)。p53 过表达是单因素分析中复发的预测因素。我们的结果表明, 突变与局部侵袭性特征相关。需要更大规模的研究,包括更多的复发性和转移性 cSCC,以进一步探讨 p53 过表达在患者风险分层中的预后意义。