Cutaneous squamous cell carcinoma is a prevalent malignancy with a rising incidence and a notably high mutational load. Exploring the genetic nuances of cSCC and investigating molecular approaches stands as a potential avenue for improving outcomes in high-risk patients. This retrospective case-control study involved two cohorts, one of 14 patients (the “discovery cohort”) and the other of 12 patients (the “validation cohort”), with cSCC located in the head/neck anatomical region and diagnosed at the pT2 stage. Overall, cases developed early local relapses of the disease, whereas controls never relapsed during the entire follow-up period. A next-generation sequencing (NGS) approach conducted on histological samples revealed that TP53 and CDKN2A were the most frequently mutated genes in our series. No specific mutations were identified as potential prognostic or therapeutic targets. Controls exhibited a tendency toward a higher mutational rate compared to cases. It is possible that an increased number of mutations could prompt the cSCC to expose more antigens, becoming more immunogenic and facilitating recognition by the immune system. This could enhance and sustain the immunological response, potentially preventing future recurrences.
皮肤鳞状细胞癌是一种发病率不断上升的常见恶性肿瘤，具有显著的高突变负荷。探索cSCC的遗传特征并研究分子方法，是改善高风险患者预后的潜在途径。这项回顾性病例对照研究涉及两个队列，一个队列为14名患者（“发现队列”），另一个队列为12名患者（“验证队列”），这些患者的cSCC均位于头/颈部解剖区域，并在pT2期确诊。总体而言，病例组出现了疾病的早期局部复发，而对照组在整个随访期间从未复发。对组织学样本进行的下一代测序（NGS）分析显示，TP53和CDKN2A是我们系列研究中最常见的突变基因。未发现可作为潜在预后或治疗靶点的特定突变。与病例组相比，对照组显示出更高的突变率趋势。突变数量的增加可能促使cSCC暴露更多抗原，使其免疫原性增强，并有助于免疫系统的识别。这可能会增强并维持免疫反应，从而可能预防未来的复发。
肿瘤(癌症)患者之家