ArticleCancer2019
Mutation of chromatin regulators and focal hotspot alterations characterize human papillomavirus-positive oropharyngeal squamous cell carcinoma.
Article in Cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 41 citations in OpenAlex.
- Article
- Molecular patterns and mechanisms of tumorigenesis in HPV-associated and HPV-independent sinonasal squamous cell carcinoma.Nature communications · 2025Article
- Evidence of mutations in tumour suppressor genes among oral cancer in Naswar, smokeless tobacco users.Acta odontologica Scandinavica · 2025Article
- Therapeutic options for human papillomavirus-positive tonsil and base of tongue cancer.Journal of internal medicine · 2025Review
- Current challenges and potential opportunities for interception and prevention of head and neck cancer.Carcinogenesis · 2025Review
- Sensitive MRD Detection from Lymphatic Fluid after Surgery in HPV-Associated Oropharyngeal Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Clinical and genomic characterization of chemoradiation-resistant HPV-positive oropharyngeal squamous cell carcinoma.Frontiers in oncology · 2024Article
- Whole exome sequencing of human papillomavirus-related multiphenotypic sinonasal carcinoma: a case report.Frontiers in oncology · 2024Article
- Development of Chromatin Regulator-related Molecular Subtypes and a Signature to Predict Prognosis and Immunotherapeutic Response in Head and Neck Squamous Cell Carcinoma.Current cancer drug targets · 2024Article
- Genetic Mutations Associated with Inflammatory Response Caused by HPV Integration in Oropharyngeal Squamous Cell Carcinoma.Biomedicines · 2023Article
- Article
- Circulating tumour DNA alterations: emerging biomarker in head and neck squamous cell carcinoma.Journal of biomedical science · 2023Review
- Sequencing Analysis ofCurrent issues in molecular biology · 2023Article
- Understanding the Roles of the NSD Protein Methyltransferases in Head and Neck Squamous Cell Carcinoma.Genes · 2022Review
- Human Papillomavirus Integration Strictly Correlates with Global Genome Instability in Head and Neck Cancer.Molecular cancer research : MCR · 2022Article
- Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.Investigative ophthalmology & visual science · 2021Article
- DNA Methylation and HPV-Associated Head and Neck Cancer.Microorganisms · 2021Review
- Targeted Therapy as a Potential De-Escalation Strategy in Locally Advanced HPV-Associated Oropharyngeal Cancer: A Literature Review.Frontiers in oncology · 2021Review
- Case Report: Rare Case of Synchronous Neck Metastasis From Metachronous Bilateral Renal Cell Carcinoma.Frontiers in oncology · 2021Article
- Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundHuman papillomavirus (HPV)-associated oropharyngeal cancer is a disease clinically and biologically distinct from smoking-related head and neck squamous cell carcinoma (HNSCC). Despite its rapidly increasing incidence, the mutational landscape of HPV+ oropharyngeal squamous cell carcinoma (OPSCC) remains understudied.
methodsThis article presents the first mutational analysis of the 46 HPV+ OPSCC tumors within the newly expanded cohort of 530 HNSCC tumors from The Cancer Genome Atlas. A separate exome sequencing analysis was also performed for 46 HPV+ OPSCCs matched to their normal lymphocyte controls from the Johns Hopkins University cohort.
resultsThere was a strikingly high 33% frequency of mutations within genes associated with chromatin regulation, including mutations in lysine methyltransferase 2C (KMT2C), lysine methyltransferase 2D (KMT2D), nuclear receptor binding SET domain protein 1 (NSD1), CREB binding protein (CREBBP), E1A-associated protein p300 (EP300), and CCCTC-binding factor (CTCF). In addition, the commonly altered genes phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit α (PIK3CA) and fibroblast growth factor receptor 3 (FGFR3) showed distinct domain-specific hotspot mutations in comparison with their HPV- counterparts. PIK3CA showed a uniquely high rate of mutations within the helicase domain, and FGFR3 contained a predominance of hotspot S249C alterations that were not found in HPV- HNSCC.
conclusionsThis analysis represents one of the largest studies to date of HPV+ OPSCC and lends novel insight into the genetic landscape of this biologically distinct disease, including a high rate of mutations in histone- and chromatin-modifying genes, which may offer novel therapeutic targets.
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