Genomic characterization of vulvar squamous cell carcinoma

Joosse, SA; Eylmann, Kathrin; Burandt, Eike; Schmalfeldt, Barbara; Oliveira‐Ferrer, Leticia; Woelber, Linn

doi:10.1093/annonc/mdy285.187

Cited by 4 publications

(7 citation statements)

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“…This group (p53À (wild type)/p16À in IHC) was larger than expected in the current cohort (28.2% of the tumors included in the final analysis). In 2017, a TP53 mutation and HPV-independent third subtype of vulvar cancer has firstly been proposed by Nooij and colleagues 8,33 and since then has as well been observed by independent groups on DNA and protein levels. Although the understanding of the molecular characterization of vulvar cancer in depth is still lacking, Nooij et al refer to a HPV negative/TP53 wild-type subgroup with a high number of NOTCH1 (5 of 10, 50%) and HRAS (5 of 10, 50%) mutations in their targeted NGS analysis of 17 genes in 36 VSCCs.…”

Section: Resultsmentioning

confidence: 87%

“…For the 3 TP53 wild-type/HPV-negative samples, mutations in SYNE1, NOTCH1, KMT2C, FGFR3, KMT2D, FBXW7, and POLE were detected. 8 Potential explanations for a double negative expression pattern include aging of the tissue. However, the proportion of negative cases did not decrease significantly over time looking at our whole cohort.…”

Section: Gynecology Original Researchmentioning

confidence: 99%

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p53 and p16 expression profiles in vulvar cancer: a translational analysis by the Arbeitsgemeinschaft Gynäkologische Onkologie Chemo and Radiotherapy in Epithelial Vulvar Cancer study group

Woelber

Eulenburg

Oliveira‐Ferrer

et al. 2021

American Journal of Obstetrics and Gynecology

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Section: Resultsmentioning

confidence: 87%

Section: Gynecology Original Researchmentioning

confidence: 99%

p53 and p16 expression profiles in vulvar cancer: a translational analysis by the Arbeitsgemeinschaft Gynäkologische Onkologie Chemo and Radiotherapy in Epithelial Vulvar Cancer study group

Woelber

Eulenburg

Oliveira‐Ferrer

et al. 2021

American Journal of Obstetrics and Gynecology

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“…It has been used as a targeted diagnostic marker for glioblastoma (42). Notably, a previous study has suggested that MACF1 mutations are associated with HPV-negative vulvar cancer (43). It is well known that EGFR mutations can influence the prognosis of cancer.…”

Section: Discussionmentioning

confidence: 99%

Identification of key genes in lung adenocarcinoma based on a competing endogenous RNA network

Song

Zhang

Chen³

et al. 2020

Oncol Lett

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Lung adenocarcinoma (LUAD) is the most commonly diagnosed type of lung cancer and exhibits a high morbidity. The present study aimed to investigate the long non-coding RNA (lncRNA)-associated competing endogenous RNA (ceRNA) mechanisms in LUAD. The receptor activity modifying protein 2-antisense RNA 1 (RAMP2-AS1) was identified using GSE113852 and GSE130779 datasets downloaded from the Gene Expression Omnibus database, and the downregulation of RAMP2-AS1 was the most significant in LUAD. In addition, microRNA (miR)-296-5p was identified to bind to RAMP2-AS1 via bioinformatics analysis. Subsequently, CD44, cyclin D3 (CCND3), neurocalcin δ (NCALD), microtubule actin crosslinking factor 1 (MACF1) and potassium channel tetramerization domain containing 15 were obtained by intersecting the predicted target genes of miR-296-5p and 368 differentially expressed mRNAs in LUAD. According to the Gene Expression Profiling Interactive Analysis and UALCAN databases, these five mRNAs were downregulated in LUAD, and their expression levels were positively correlated with those of RAMP2-AS1. CD44, CCND3, NCALD and MACF1 were selected as key mRNAs in LUAD based on prognostic analyses. Furthermore, functional enrichment analyses were performed and an interaction network was constructed to reveal the functions of the RAMP2-AS1-associated ceRNA in LUAD. The results indicated that the functions were mainly enriched in generic transcription pathways, cyclin D-associated events in G 1 and epithelial stromal transformation. Reverse transcription-quantitative PCR assays revealed that RAMP2-AS1, CD44, CCND3, NCALD and MACF1 expression was lower in tumor tissues than in normal tissues, while miR-296-5p expression was higher in tumor tissues compared with in normal tissues. The association between RAMP2-AS1 and MACF1 was further confirmed using in vitro experiments. Overall, the present results indicated that RAMP2-AS1, miR-296-5p, CD44, CCND3, NCALD and MACF1 may be involved in LUAD progression and may therefore serve as potential biomarkers and provide a theoretical basis for the study of the pathogenesis of LUAD.

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“…Viral oncoproteins E6 and E7 degrade p53 and Rb proteins and induce p16 expression 36,47 . Most studies suggest that TP53 remains wild type in these tumors 48 . Multiple studies have reported a low frequency of TP53 mutation in HPV-associated SCC and its precursor, high-grade SIL 48–51 .…”

Section: Molecular Features Of Invasive Vulvar Malignanciesmentioning

confidence: 99%

“…48 Multiple studies have reported a low frequency of TP53 mutation in HPVassociated SCC and its precursor, high-grade SIL. [48][49][50][51] Human papillomavirus-independent SCC is known to have worse recurrencefree and overall survival than HPV-associated SCC. [52][53][54][55][56] Human papillomavirus-independent SCC with wild-type TP53 shows better survival than TP53 mutant ones; however, both have a worse prognosis than HPV-associated SCC.…”

Section: Molecular Features Of Invasive Vulvar Malignancies Molecular...mentioning

confidence: 99%

Molecular Features of Preinvasive and Invasive Vulvar Neoplasms

Deb

Heller

2022

J Low Genit Tract Dis

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ObjectivesNeoplasms arising from the vulva are uncommon and comprise various subtypes. Given the recent advancements in the molecular aspects of oncologic pathology and how they have impacted cancer treatment, an understanding of recent innovations in the molecular features of vulvar lesions is important.Materials and MethodsSystematic literature search was performed on PubMed, Google Scholar, and Scopus databases for molecular and genetic characteristics of vulvar neoplasms. Peer-reviewed literature published in English is included.ResultsSquamous cell carcinoma (SCC) and its precursors are the predominant neoplasm at this site. Human papillomavirus (HPV) plays a crucial role in the pathogenesis of some of these lesions. Human papillomavirus–associated SCC follows the carcinogenic pathway driven by viral proteins E6 and E7 while HPV-independent SCC shows a high incidence of mutation of TP53 and CDKN2A genes. Mutations in the genes involving the PI3K-Akt pathway play an important role in the pathogenesis of both types of SCC. Among other vulvar malignancies, melanoma, and vulvar Paget disease (VPD) pose a significant clinical challenge and have unique molecular characteristics. Compared with dermal cutaneous melanoma, vulvar melanoma shows a higher rate of mutation of cKIT and NRAS genes and a lower rate of mutations in BRAF. Less than 20% of VPD shows amplification of ERBB2 and seldom shows mutation in genes involving the PI3K-Akt pathway.ConclusionsSeveral potentially targetable molecular pathways have emerged as they have been shown to be involved in the tumorigenesis of SCC, melanoma, and VPD.

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Genomic characterization of vulvar squamous cell carcinoma

Cited by 4 publications

References 0 publications

p53 and p16 expression profiles in vulvar cancer: a translational analysis by the Arbeitsgemeinschaft Gynäkologische Onkologie Chemo and Radiotherapy in Epithelial Vulvar Cancer study group

p53 and p16 expression profiles in vulvar cancer: a translational analysis by the Arbeitsgemeinschaft Gynäkologische Onkologie Chemo and Radiotherapy in Epithelial Vulvar Cancer study group

Identification of key genes in lung adenocarcinoma based on a competing endogenous RNA network

Molecular Features of Preinvasive and Invasive Vulvar Neoplasms

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