Mutational signatures and chromosome alteration profiles of squamous cell carcinomas of the vulvaopen access
- Authors
- Han, MR[Han, Mi-Ryung]; Shin, S[Shin, Sun]; Park, HC[Park, Hyeon-Chun]; Kim, MS[Kim, Min Sung]; Lee, SH[Lee, Sung Hak]; Jung, SH[Jung, Seung Hyun]; Song, SY[Song, Sang Yong]; Lee, SH[Lee, Sug Hyung]; Chung, YJ[Chung, Yeun-Jun]
- Issue Date
- 9-Feb-2018
- Publisher
- NATURE PUBLISHING GROUP
- Citation
- EXPERIMENTAL AND MOLECULAR MEDICINE, v.50, no.2
- Indexed
- SCIE
SCOPUS
KCI
- Journal Title
- EXPERIMENTAL AND MOLECULAR MEDICINE
- Volume
- 50
- Number
- 2
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/21013
- DOI
- 10.1038/emm.2017.265
- ISSN
- 1226-3613
- Abstract
- Vulvar squamous cell carcinoma (SCC) consists of two different etiologic categories: human papilloma virus (HPV)-associated (HPV (+)) and HPV-non-associated (HPV (-)). There have been no genome-wide studies on the genetic alterations of vulvar SCCs or on the differences between HPV (+) and HPV (-) vulvar SCCs. In this study, we performed whole-exome sequencing and copy number profiling of 6 HPV (+) and 9 HPV (-) vulvar SCCs and found known mutations (TP53, CDKN2A and HRAS) and copy number alterations (CNAs) (7p and 8q gains and 2q loss) in HPV (-) SCCs. In HPV (+), we found novel mutations in PIK3CA, BRCA2 and FBXW7 that had not been reported in vulvar SCCs. HPV (-) SCCs exhibited more mutational loads (numbers of nonsilent mutations and driver mutations) than HPV (+) SCCs, but the CNA loads and mutation signatures between HPV (+) and HPV (-) SCCs did not differ. Of note, 40% and 40% of the 15 vulvar SCCs harbored PIK3CA and FAT1 alterations, respectively. In addition, we found that the SCCs harbored kataegis (a localized hypermutation) in 2 HPV (+) SCCs and copy-neutral losses of heterozygosity in 4 (one HPV (+) and 3 HPV (-)) SCCs. Our data indicate that HPV (+) and HPV (-) vulvar SCCs may have different mutation and CNA profiles but that there are genomic features common to SCCs. Our data provide useful information for both HPV (+) and HPV (-) vulvar SCCs and may aid in the development of clinical treatment strategies.
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- Appears in
Collections - Medicine > Department of Medicine > 1. Journal Articles
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