Kato Junji, Hida Tokimasa, Idogawa Masashi, Tokino Takashi, Uhara Hisashi
Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.
Department of Medical Genome Sciences, Cancer Research Institute, Sapporo Medical University School of Medicine, Sapporo, Japan.
J Dermatol. 2025 Mar;52(3):493-498. doi: 10.1111/1346-8138.17592. Epub 2024 Dec 15.
Comprehensive studies of the genetic profiles of cutaneous squamous cell carcinoma (cSCC) in Japanese patients have been lacking, although an understanding of these profiles is crucial for improving treatment outcomes. Since 2019, comprehensive genomic profiling (CGP) has been covered by Japan's health insurance, and the resulting data have been compiled into a comprehensive database by the country's Center for Cancer Genomics and Advanced Therapeutics (C-CAT). In this retrospective study, we used CGP data from the C-CAT database to analyze genomic characteristics of cSCC in Japanese patients. The patients' clinical and genomic data, including the chemotherapy regimens, tumor mutational burden (TMB), and survival status, were obtained. We analyzed the cases of 152 patients, with only those evaluated by the FoundationOne® CDx included for accuracy. Among the 152 patients, the most common gene oncogenic alterations were observed in TP53 (67%), CDKN2A (54%), TERT (49%), CDKN2B (33%), and NOTCH1 (18%). TMB-high (≥10 mut/Mb) was observed in 27% (n = 41) of the patients, with a median age of 75 years for this group. TMB-low (<10 mut/Mb) was observed in 73% (n = 111) of the patients; their median age was 67 years.
尽管了解皮肤鳞状细胞癌（cSCC）的基因特征对于改善治疗效果至关重要，但此前一直缺乏对日本患者cSCC基因特征的全面研究。自2019年以来，日本医疗保险已涵盖全面基因组分析（CGP），其产生的数据已由该国癌症基因组学与先进治疗中心（C-CAT）汇编成一个综合数据库。在这项回顾性研究中，我们使用了C-CAT数据库中的CGP数据来分析日本患者cSCC的基因组特征。获取了患者的临床和基因组数据，包括化疗方案、肿瘤突变负荷（TMB）和生存状况。我们分析了152例患者的病例，为确保准确性，仅纳入了通过FoundationOne® CDx评估的病例。在这152例患者中，最常见的基因致癌改变见于TP53（67%）、CDKN2A（54%）、TERT（49%）、CDKN2B（33%）和NOTCH1（18%）。27%（n = 41）的患者观察到高肿瘤突变负荷（≥10个突变/Mb），该组患者的中位年龄为75岁。73%（n = 111）的患者观察到低肿瘤突变负荷（<10个突变/Mb）；他们的中位年龄为67岁。
