Colombino Maria, Palmieri Giuseppe, Rodio Manuela, Tettamanzi Matilde, Rampazzo Silvia, Margani Raffaello, Trignano Emilio, Cossu Antonio, Fedeli Maria Antonietta, Fadda Giovanni Maria, Rubino Corrado
Institute of Genetic and Biomedical Research (IRGB), National Research Council (CNR), 07100 Sassari, Italy.
Immuno-Oncology & Targeted Cancer Biotherapies, Unit of Cancer Genetics, Institute of Genetic and Biomolecular Research, National Research Council (CNR), University of Sassari, 07100 Sassari, Italy.
Cancers (Basel). 2024 May 22;16(11):1956. doi: 10.3390/cancers16111956.
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常见的恶性肿瘤，其发病率呈上升趋势，且具有显著高的突变负荷。探索皮肤鳞状细胞癌的基因细微差别并研究分子方法是改善高危患者治疗结果的潜在途径。这项回顾性病例对照研究涉及两个队列，一个队列有14名患者（“发现队列”），另一个队列有12名患者（“验证队列”），皮肤鳞状细胞癌位于头颈部解剖区域，诊断为pT2期。总体而言，病例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）方法显示，TP53和CDKN2A是我们队列中最常发生突变的基因。未发现特定突变作为潜在的预后或治疗靶点。与病例相比，对照组表现出更高的突变率趋势。可能是突变数量的增加促使皮肤鳞状细胞癌暴露更多抗原，变得更具免疫原性并便于免疫系统识别。这可以增强和维持免疫反应，有可能预防未来的复发。
