Division of Genome Biology, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan.
Department of Gynecology, National Cancer Center Hospital, Tokyo, Japan.
Sci Rep. 2024 Jun 6;14(1):13058. doi: 10.1038/s41598-024-63913-z.
The incidence of vulvar carcinoma varies by race; however, it is a rare disease, and its genomic profiles remain largely unknown. This study examined the characteristics of vulvar squamous cell carcinoma (VSCC) in Japanese patients, focusing on genomic profiles and potential racial disparities. The study included two Japanese groups: the National Cancer Center Hospital (NCCH) group comprised 19 patients diagnosed between 2015 and 2023, and the Center for Cancer Genomics and Advanced Therapeutics group comprised 29 patients diagnosed between 2019 and 2022. Somatic mutations were identified by targeted or panel sequencing, and TP53 was identified as the most common mutation (52-81%), followed by HRAS (7-26%), CDKN2A (21-24%), and PIK3CA (5-10%). The mutation frequencies, except for TP53, were similar to those of Caucasian cohorts. In the NCCH group, 16 patients of HPV-independent tumors were identified by immunohistochemistry and genotyping. Univariate analysis revealed that TP53-mutated patients were associated with a poor prognosis (log-rank test, P = 0.089). Japanese VSCC mutations resembled those of Caucasian vulvar carcinomas, and TP53 mutations predicted prognosis regardless of ethnicity. The present findings suggest potential molecular-targeted therapies for select VSCC patients.
外阴癌的发病率因种族而异；然而，它是一种罕见的疾病，其基因组特征在很大程度上尚不清楚。本研究检查了日本患者外阴鳞状细胞癌（VSCC）的特征，重点关注基因组特征和潜在的种族差异。该研究包括两个日本组：国家癌症中心医院（NCCH）组包括 19 名 2015 年至 2023 年间确诊的患者，癌症基因组学和先进治疗中心组包括 29 名 2019 年至 2022 年间确诊的患者。通过靶向或面板测序确定体细胞突变，TP53 被确定为最常见的突变（52-81%），其次是 HRAS（7-26%）、CDKN2A（21-24%）和 PIK3CA（5-10%）。除了 TP53 之外，这些突变的频率与白种人队列相似。在 NCCH 组中，通过免疫组织化学和基因分型鉴定了 16 例 HPV 无关肿瘤患者。单因素分析显示，TP53 突变患者预后不良（对数秩检验，P=0.089）。日本 VSCC 的突变与白种人外阴癌相似，TP53 突变预测预后与种族无关。这些发现提示针对特定 VSCC 患者的潜在分子靶向治疗。
