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The Genetics of Head and Neck Squamous Cell Carcinoma

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Molecular Cancer Biology".

Deadline for manuscript submissions: closed (28 February 2026) | Viewed by 738

Special Issue Editor


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Guest Editor
Department of Otolaryngology—Head and Neck Surgery, McGill University, Montreal, QC H3T 1E2, Canada
Interests: carcinogenesis; cancer progression; metastasis signaling; preclinical and animal models; genetic; genomic and epigenomic; target and drug discovery
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Special Issue Information

Dear Colleagues,

Head and neck squamous cell carcinoma (HNSCC) remains a significant global health burden, with complex genetic and molecular underpinnings that continue to shape diagnostic, prognostic, and therapeutic strategies. Recent advances in genomic technologies have uncovered a vast array of genetic mutations, epigenetic alterations, and molecular pathways driving HNSCC initiation and progression. Understanding these genetic underpinnings is crucial for developing novel therapeutic strategies, improving patient stratification, and enhancing clinical outcomes. This Special Issue aims to explore the latest advancements in understanding the genetic landscape of HNSCC, highlighting innovations in genomic profiling, biomarker discovery, and precision oncology approaches. We seek to create a comprehensive collection of research that advances knowledge on the interplay between genetic alterations, tumor biology, and the tumor microenvironment, ultimately driving more effective, individualized treatment options. This Special Issue aligns with the journal’s commitment to advancing cancer research and precision medicine, ensuring a balance of foundational insights and translational applications.

We welcome submissions of original research articles, reviews, and short communications addressing key genetic insights into HNSCC development, progression, and treatment resistance. Topics may include, but are not limited to, the following:

  • Genomic and transcriptomic profiling of HNSCC subtypes;
  • Somatic mutations and their clinical significance;
  • Epigenetic regulation and chromatin remodeling in HNSCC;
  • Biomarker discovery for diagnosis, prognosis, and therapy response;
  • Genetic drivers of treatment resistance;
  • The role of the tumor microenvironment in genetic alterations;
  • Precision medicine approaches targeting genetic vulnerabilities;
  • Comparative genetics between HPV-positive and HPV-negative HNSCC;
  • Liquid biopsy and circulating tumor DNA for genetic monitoring.

We look forward to your valuable contributions and collaboration in advancing this vital area of oncology research.

Best,

Dr. Sabrina Daniela da Silva
Guest Editor

Manuscript Submission Information

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • head and neck squamous cell carcinoma
  • tumor genetics
  • genomic profiling
  • precision oncology
  • biomarkers
  • tumor microenvironment
  • epigenetics
  • somatic mutations
  • molecular pathways
  • targeted therapies

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Published Papers (1 paper)

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Research

14 pages, 2875 KB  
Article
Tumor-Specific Pro-Thrombotic Gene Expression in Head and Neck Squamous Cell Carcinoma: A Multi-Cohort Transcriptomic Analysis
by Kiranya E. Arnold, Nadia Debick, John Brognard and Auyon J. Ghosh
Cancers 2026, 18(7), 1055; https://doi.org/10.3390/cancers18071055 - 25 Mar 2026
Viewed by 430
Abstract
Objectives: Head and neck tumors have been associated with varying risks for venous thromboembolism (VTE). Through a cross-tumor comparison, we assessed site-specific coagulation-related gene expression changes in head and neck squamous cell carcinoma (HNSCC) compared to squamous cell tumors in the esophagus [...] Read more.
Objectives: Head and neck tumors have been associated with varying risks for venous thromboembolism (VTE). Through a cross-tumor comparison, we assessed site-specific coagulation-related gene expression changes in head and neck squamous cell carcinoma (HNSCC) compared to squamous cell tumors in the esophagus (ESCCa) and lung (LUSC). Further, we assessed the relationship between clinicopathologic features of HNSCC and coagulome gene expression. Methods: RNA-sequencing data from primary tumor tissues of HNSCCa, ESCCa, and LUSC were obtained from The Cancer Genome Atlas (TCGA). Three previously identified pro-thrombotic genes (F3, SERPINE1, and SERPINB2) were analyzed and, for pan-cancer comparisons, gene expression was Z-standardized and summarized as a composite coagulome score. For HNSCCa-specific analyses, gene expression was compared using log2 RSEM counts, contrasting between HPV status, primary tumor site, tumor stage, grade, and demographic characteristics. Results: HNSCCa demonstrated the highest composite coagulome activation (mean Z-score = 0.29, 95% CI: 0.23–0.35) compared with LUSC and ESCCa (mean Z-scores = −0.27 and −0.16, respectively; p < 0.001). Among 487 HNSCCa tumors, HPV-negative tumors exhibited significantly higher composite coagulome expression than HPV-positive tumors (mean ± SD, 11.25 ± 1.39 vs. 10.14 ± 1.30; p < 0.001). Oral cavity tumors demonstrated the highest coagulome expression, while oropharyngeal tumors were most suppressed. Higher histologic grade was inversely associated with coagulome expression (p < 0.001). Patient age, sex, and race were not significantly associated with coagulome expression. Conclusions: HNSCCa exhibits a tumor-specific pro-thrombotic expression profile with substantial heterogeneity driven by HPV status and primary tumor site. Despite elevated tumor-specific pro-coagulant signaling, these findings reflect tumor-specific pro-thrombotic potential rather than clinical VTE risk in HNSCCa, which likely remains context-dependent and may require additional inflammatory or treatment-related triggers to clinically manifest. Full article
(This article belongs to the Special Issue The Genetics of Head and Neck Squamous Cell Carcinoma)
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