Cutaneous squamous cell carcinoma (cSCC) manifests through the complex interactions of UV-induced DNA damage, genetic mutations, and alterations in the tumor microenvironment. A high mutational burden is present in cSCC, as well as both cSCC precursors and normal skin, making driver genes difficult to differentiate. Despite this, several key driver genes have been identified, including TP53, the NOTCH family, CDKN2A, PIK3CA, and EGFR. In addition to mutations, the tumor microenvironment and the manipulation and evasion of the immune system play a critical role in cSCC progression. Novel therapeutic approaches, such as immunotherapy and EGFR inhibitors, have been used to target these dysregulations, and have shown promise in treating advanced cSCC cases, emphasizing the need for targeted interventions considering both genetic and microenvironmental factors for improved patient outcomes.
皮肤鳞状细胞癌（cSCC）的发生发展涉及紫外线诱导的DNA损伤、基因突变及肿瘤微环境改变之间的复杂相互作用。cSCC及其癌前病变甚至正常皮肤组织均存在较高的突变负荷，这使得驱动基因的鉴别颇具挑战。尽管如此，目前仍成功鉴定出TP53、NOTCH家族、CDKN2A、PIK3CA和EGFR等关键驱动基因。除基因突变外，肿瘤微环境及免疫系统的操纵与逃逸机制在cSCC进展中起着至关重要的作用。针对这些异常调控的新型治疗策略，如免疫疗法和EGFR抑制剂，已在晚期cSCC治疗中展现出良好前景，这凸显了综合考虑遗传因素与微环境因素进行靶向干预对改善患者预后的必要性。
The Mutational and Microenvironmental Landscape of Cutaneous Squamous Cell Carcinoma: A Review
肿瘤(癌症)患者之家