ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2018
Analysis of clinically relevant somatic mutations in high-risk head and neck cutaneous squamous cell carcinoma.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Analysis of mutations in cutaneous squamous cell carcinoma reveals novel genes and mutations associated with patient-specific characteristics and metastasis: a systematic review.Archives of dermatological research · 2022Pooled it
- Review
- Arsenic exposure and skin cancer: Mechanisms, clinical evidence and public health implications (Review).International journal of molecular medicine · 2026Review
- Role ofTranslational cancer research · 2026Article
- RB1 inactivation in cutaneous carcinomas.Histopathology · 2026Review
- Review
- Management Approaches for High-Risk Cutaneous Squamous Cell Carcinoma with Perineural Invasion: An Updated Review.Current treatment options in oncology · 2024Review
- Article
- Reconceiving Perineural Invasion in Cutaneous Squamous Cell Carcinoma: From Biological to Histopathological Assessment.Pathobiology : journal of immunopathology, molecular and cellular biology · 2024Review
- Molecular Alterations in Cutaneous Squamous Cell Carcinoma in Immunocompetent and Immunosuppressed Hosts-A Systematic Review.Cancers · 2023Review
- Next-generation sequencing in dermatology.Frontiers in medicine · 2023Review
- Development of anFrontiers in oncology · 2023Article
- Review
- Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Emerging precision diagnostics in advanced cutaneous squamous cell carcinoma.NPJ precision oncology · 2022Review
- Cancer Progression Gene Expression Profiling Identifies the Urokinase Plasminogen Activator Receptor as a Biomarker of Metastasis in Cutaneous Squamous Cell Carcinoma.Frontiers in oncology · 2022Article
- Whole genome analysis reveals the genomic complexity in metastatic cutaneous squamous cell carcinoma.Frontiers in oncology · 2022Article
- Oh, the Mutations You'll Acquire! A Systematic Overview of Cutaneous Squamous Cell Carcinoma.Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology · 2021Review
- Gene expression profiling of perineural invasion in head and neck cutaneous squamous cell carcinoma.Scientific reports · 2021Article
- Molecular Profile of Advanced Cutaneous Squamous Cell Carcinoma.The Journal of clinical and aesthetic dermatology · 2021Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cutaneous squamous cell carcinoma is the second most prevalent malignancy, most frequently occurring in the head and neck (head and neck cutaneous squamous cell carcinoma). Treatment of locally advanced or metastatic disease is associated with functional morbidity and disfigurement. Underlying genetic mechanisms are poorly understood. Targeted sequencing of 48 clinically relevant genes was performed on DNA extracted from formalin-fixed and paraffin-embedded high-risk primary head and neck cutaneous squamous cell carcinomas that remained non-metastatic at minimum follow-up of 24 months. Associations of somatic mutations with clinicopathologic characteristics were evaluated and compared with those described in the literature for metastatic disease. Alterations in 44 cancer-associated genes were identified. TP53 was mutated in 100% of cases; APC, ATM, ERBB4, GNAQ, KIT, RB1 and ABL1 were altered in 60% of cases. FGFR2 mutations (40%) were exclusively seen in patients with perineural invasion. MLH1 mutations were exclusively seen in the two younger patients (<45 years). Lower incidences of NOTCH1 mutations were observed compared with that described in metastatic head and neck cutaneous squamous cell carcinoma in the literature. Somatic mutations susceptible to EGFR inhibitors, and other small molecular targeted therapeutics were seen in 60% of cases. This study provides insights into somatic mutations in non-metastatic, high-risk head and neck cutaneous squamous cell carcinoma and identifies potential therapeutic targets. Alterations in FGFR2 and NOTCH1 may have roles in local and distant disease progression.
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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.