Department of Dermatology, Nippon Medical School, Bunkyo-Ku, Tokyo 113-8602, Japan.
Department of Dermatology, Nippon Medical School Chiba Hokusoh Hospital, Inzai 270-1694, Japan.
Int J Mol Sci. 2022 Oct 8;23(19):11968. doi: 10.3390/ijms231911968.
Among human cutaneous malignancies, basal cell carcinoma is the most common. Solid advances in unveiling the molecular mechanisms of basal cell carcinoma have emerged in recent years. In Gorlin syndrome, which shows basal cell carcinoma predisposition, identification of the patched 1 gene (PTCH1) mutation was a dramatic breakthrough in understanding the carcinogenesis of basal cell carcinoma. PTCH1 plays a role in the hedgehog pathway, and dysregulations of this pathway are known to be crucial for the carcinogenesis of many types of cancers including sporadic as well as hereditary basal cell carcinoma. In this review, we summarize the clinical features, pathological features and hedgehog pathway as applied in basal cell carcinoma. Other crucial molecules, such as p53 and melanocortin-1 receptor are also discussed. Due to recent advances, therapeutic strategies based on the precise molecular mechanisms of basal cell carcinoma are emerging. Target therapies and biomarkers are also discussed.
在人类皮肤恶性肿瘤中,基底细胞癌最为常见。近年来,在揭示基底细胞癌分子机制方面取得了重大进展。在表现出基底细胞癌易感性的 Gorlin 综合征中, patched 1 基因(PTCH1)突变的鉴定是理解基底细胞癌发生的一个重大突破。PTCH1 在 hedgehog 通路中发挥作用,该通路的失调被认为对包括散发性和遗传性基底细胞癌在内的多种癌症的发生至关重要。在这篇综述中,我们总结了基底细胞癌的临床特征、病理特征和 hedgehog 通路。还讨论了其他关键分子,如 p53 和黑素皮质素-1 受体。由于最近的进展,基于基底细胞癌精确分子机制的治疗策略正在出现。还讨论了靶向治疗和生物标志物。