Overview
Study: Han et al., Experimental & Molecular Medicine, 2018. The Catholic University of Korea, with Samsung Medical Center.
Cohort: 15 vulvar squamous cell carcinomas, 6 associated with human papillomavirus (HPV) and 9 not, each with a matched normal sample.
Platform: Whole-exome sequencing and copy-number profiling. The release contains somatic mutations.
Findings: HPV-negative tumors carried more nonsilent and driver mutations than HPV-positive tumors. In the HPV-negative group the authors found TP53, CDKN2A and HRAS mutations already reported in vulvar cancer; in the HPV-positive group they found PIK3CA, BRCA2 and FBXW7 mutations they describe as not previously reported in vulvar squamous cell carcinoma. PIK3CA and FAT1 were each altered in 40% of the 15 tumors. Copy-number load and mutational signatures did not differ between the two groups.
Clinical annotations: HPV status, age at diagnosis, tumor size, invasion depth and sequencing coverage.