ArticleHuman pathology2019
Recurrent genetic alterations and biomarker expression in primary and metastatic squamous cell carcinomas of the vulva.
Article in Human pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Positivity Rate of PD-L1 Expression and Its Clinical Significance in Vulvar Cancer: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2025Pooled it
- A Phase II Basket Trial of Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors SWOG S1609: Vulvar Cancers.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Trial
- Nondiffuse p16 Expression in HPV-Associated and HPV-Independent Cervical Squamous Cell Carcinomas: A Single-Institution Case Series With Emphasis on Histopathologic Features and Molecular Alterations.The American journal of surgical pathology · 2026Article
- Clinicopathological characterization of cervical squamous cell carcinoma withOncology letters · 2026Article
- Comprehensive genomic profiling of vulvar squamous cell carcinoma reveals subtype-specific mutational landscapes.Virchows Archiv : an international journal of pathology · 2026Article
- Comparative Analysis Reveals Recurrent Molecular Alterations in Low-Risk Human Papillomavirus 6 and Human Papillomavirus 11-Associated Squamous Cell Carcinoma of the Uterine Cervix and Vulva.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- Clinicopathologic Features and Viral Status of Low-risk HPV6 and HPV11-Associated Squamous Cell Carcinoma of the Uterine Cervix and Vulva.The American journal of surgical pathology · 2025Article
- Pathological variants in HPV-independent vulvar tumours.Scientific reports · 2025Article
- Primary vulvar squamous cell carcinomas with high T cell infiltration and active immune signaling are potential candidates for neoadjuvant PD-1/PD-L1 immunotherapy.Journal for immunotherapy of cancer · 2021Article
- Molecular Landscape of Vulvar Squamous Cell Carcinoma.International journal of molecular sciences · 2021Review
- Molecular characterization of invasive and in situ squamous neoplasia of the vulva and implications for morphologic diagnosis and outcome.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Molecular events in the pathogenesis of vulvar squamous cell carcinoma.Seminars in diagnostic pathology · 2021Review
Corrections and comments
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Authors and funding
18 authors at 3 institutions in 1 country.
Funding
Abstract
Using a comprehensive next-generation sequencing pipeline (143 genes), Oncomine Comprehensive v.2, we analyzed genetic alterations on a set of vulvar squamous cell carcinomas (SCCs) with emphasis on the primary and metastatic samples from the same patient, to identify amenable therapeutic targets. Clinicopathologic features were reported and genomic DNA was extracted from 42 paraffin-embedded tumor tissues of 32 cases. PD-L1 expression was evaluated in 20 tumor tissues (10 cases with paired primary and metastatic tumors). Fifteen (88%) of 17 successfully analyzed HPV-unrelated SCCs harbored TP53 mutations. 2 different TP53 mutations had been detected in the same tumor in 4 of 15 cases. Other recurrent genetic alterations in this group of tumors included CDKN2a mutations (41%), HRAS mutations (12%), NOTCH1 mutations (12%) and BIRC3 (11q22.1-22.2) amplification (12%). Six HPV-related tumors harbored PIK3CA, BAP1, PTEN, KDR, CTNNB1, and BRCA2 mutations, of which, one case also contained TP53 mutation. Six cases showed identical mutations in paired primary site and distant metastatic location and four cases displayed different mutational profiles. PD-L1 expression was seen in 6 of 10 primary tumors and all 6 paired cases showed discordant PD-L1 expression in the primary and metastatic sites. Our results further confirmed the genetic alterations that are amenable to targeted therapy, offering the potential for individualized management strategies for the treatment of these aggressive tumors with different etiology. Discordant PD-L1 expression in the primary and metastatic vulvar SCCs highlights the importance of evaluation of PD-L1 expression in different locations to avoid false negative information provided for immunotherapy.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.