Korea Catholic University Vulvar SCC WES Cohort (2018)

Overview

First genome-wide characterization of vulvar squamous cell carcinoma, generated by Han et al. at The Catholic University of Korea. The cohort comprises 15 Korean vulvar SCC patients (6 HPV-positive, 9 HPV-negative) with surgically resected primary tumors and matched normal tissue, profiled by whole-exome sequencing and copy-number analysis. The study establishes etiology-stratified genomic landscapes: HPV(−) tumours recapitulate classical drivers (TP53, CDKN2A, HRAS) while HPV(+) tumours exhibit novel mutations in PIK3CA, BRCA2, and FBXW7. This dataset is deposited in cBioPortal as vsc_cuk_2018. PMID:29422544

Composition

  • 15 Korean vulvar SCC patients (ages 45–83) with surgically resected primary tumors and matched normal tissue. PMID:29422544
  • HPV status by real-time PCR (Seegene): 6 HPV(+) (HPV16, 52, or 58 — all high-risk) and 9 HPV(−). PMID:29422544
  • Cancer type: vulvar squamous cell carcinoma (VSC). PMID:29422544
  • Tissue: 1 frozen (VSCC2), 14 FFPE; tumor cell purity approximately 70% after microdissection by two pathologists. PMID:29422544
  • No survival or treatment-response data are linked to the molecular calls in this dataset. PMID:29422544

Assays / panels (linked)

Papers using this cohort

  • PMID:29422544 — Han et al. 2018, Experimental & Molecular Medicine — “Mutational signatures and chromosome alteration profiles of squamous cell carcinomas of the vulva”

Notable findings derived from this cohort

  • HPV(−) vulvar SCCs carried more nonsilent and driver mutations than HPV(+) cases; CNA burden and mutational signatures did not differ between the two etiologic groups. PMID:29422544
  • HPV(−) tumours recapitulated classical drivers: TP53, CDKN2A, and HRAS; CNAs included 7p and 8q gains and 2q loss. PMID:29422544
  • HPV(+) tumours harboured novel-for-vulvar-SCC mutations in PIK3CA, BRCA2, and FBXW7. PMID:29422544
  • PIK3CA and FAT1 were each altered in 40% (6/15) of vulvar SCCs irrespective of HPV status. PMID:29422544
  • Kataegis (localized hypermutation, average inter-mutation distance ≤10 kb) detected in 2 HPV(+) tumours. PMID:29422544
  • Copy-neutral loss of heterozygosity observed in 4 tumours (1 HPV(+), 3 HPV(−)). PMID:29422544

Sources

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