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Multiomic Sequencing of Intermediate- to High-Risk Cutaneous Squamous Cell Carcinoma Identifies Critical Genes and Expression Patterns Associated with Disease and Poor Outcomes

  • 0Department of Dermatology, Mayo Clinic, Scottsdale, Arizona, USA.
The Journal of Investigative Dermatology +

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January 30, 2025

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January 30, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

This study reveals key genetic mutations and transcriptional changes in cutaneous squamous cell carcinoma. A novel gene expression panel accurately predicts metastasis and survival, offering hope for improved patient outcomes.

Area Of Science

  • Oncology
  • Genomics
  • Molecular Biology

Background

  • Cutaneous squamous cell carcinoma (cSCC) is a prevalent human cancer with significant mortality.
  • Current understanding of cSCC's transcriptional landscape concerning high-risk features and patient outcomes remains limited.

Purpose Of The Study

  • To investigate stage-matched, outcome-differentiated cSCC using whole-exome and transcriptome sequencing.
  • To identify key driver mutations, transcriptional pathways, and develop a gene expression panel for predicting cSCC prognosis.

Main Methods

  • Whole-exome and transcriptome sequencing of cSCC samples.
  • Bioinformatic analysis for driver mutations, pathway enrichment, and integrative analysis.
  • Development and validation of a gene expression panel for metastasis and survival prediction.

Main Results

  • Identified key driver mutations (e.g., TP53, CDKN2A, NOTCH1) and enriched pathways (e.g., UV response, cell cycle, immune signaling).
  • Developed a 16-gene panel with high accuracy (90%) for predicting metastasis.
  • Developed an 11-gene panel for overall survival prediction, demonstrating significant predictive power (HR=2.47).

Conclusions

  • Integrative genomic and transcriptomic analysis provides critical insights into cSCC carcinogenesis.
  • The developed gene expression panels offer promising tools for predicting metastasis and survival in cSCC patients.
  • Further research can leverage these findings for targeted therapies and improved clinical management of cSCC.

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