PDF(Pubmed)
Abstract：
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.
摘要：
外阴癌的发病率因种族而异；然而，这是一种罕见的疾病，其基因组谱在很大程度上仍然未知。这项研究检查了日本患者的外阴鳞状细胞癌（VSCC）的特征，关注基因组概况和潜在的种族差异。该研究包括两个日本组：国家癌症中心医院（NCCH）组包括2015年至2023年诊断的19名患者，癌症基因组学和高级治疗中心组包括2019年至2022年诊断的29名患者。通过靶向或小组测序鉴定体细胞突变，TP53被鉴定为最常见的突变（52-81%），其次是HRAS（7-26%），CDKN2A（21-24%），和PIK3CA（5-10％）。突变频率,除TP53外,与高加索人群相似.在NCCH组中，通过免疫组织化学和基因分型鉴定了16例HPV非依赖性肿瘤患者。单因素分析显示TP53突变患者预后不良(log-ranktest,P=0.089)。日本VSCC突变类似于高加索外阴癌，TP53突变可预测无论种族如何的预后。目前的研究结果表明，潜在的分子靶向治疗选择VSCC患者。
