AI Article Synopsis

  • A study examined vulvar squamous cell carcinoma (VSCC) in Japanese patients to explore genomic profiles and racial differences, as this disease is rare and not well understood.
  • The research included 48 patients from two Japanese cancer centers, identifying TP53 as the most common mutation, followed by HRAS, CDKN2A, and PIK3CA, with mutation frequencies similar to Caucasian patients.
  • TP53 mutations were linked to poorer patient prognosis, suggesting the potential for targeted therapies based on these genomic findings.

Article 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11156893PMC
http://dx.doi.org/10.1038/s41598-024-63913-zDOI Listing

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