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Genomic profiles of Japanese patients with vulvar squamous cell carcinoma.
- Source :
-
Scientific reports [Sci Rep] 2024 Jun 06; Vol. 14 (1), pp. 13058. Date of Electronic Publication: 2024 Jun 06. - Publication Year :
- 2024
-
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, Pā=ā0.089). 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.<br /> (© 2024. The Author(s).)
- Subjects :
- Humans
Female
Middle Aged
Aged
Japan epidemiology
Aged, 80 and over
Cyclin-Dependent Kinase Inhibitor p16 genetics
Class I Phosphatidylinositol 3-Kinases genetics
Prognosis
Adult
Asian People genetics
Genomics methods
Proto-Oncogene Proteins p21(ras) genetics
East Asian People
Vulvar Neoplasms genetics
Vulvar Neoplasms pathology
Carcinoma, Squamous Cell genetics
Carcinoma, Squamous Cell pathology
Mutation
Tumor Suppressor Protein p53 genetics
Subjects
Details
- Language :
- English
- ISSN :
- 2045-2322
- Volume :
- 14
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Scientific reports
- Publication Type :
- Academic Journal
- Accession number :
- 38844774
- Full Text :
- https://doi.org/10.1038/s41598-024-63913-z