Gene expression profiling for metastatic risk in head and neck cutaneous squamous cell carcinoma

[摘要] Objective Over 50% of newly diagnosed cutaneous squamous cell carcinoma (cSCC) lesions occur in the head and neck (cSCC-HN), and metastasis to nodal basins in this region further complicates surgical and adjuvant treatment. The current study addressed whether the 40-gene expression profile (40-GEP) test can predict metastatic risk in cSCC-HN with improved accuracy and provide independent prognostic value to complement current risk assessment methods. Study Design Multicenter, retrospective cohort study. Methods Formalin-fixed paraffin-embedded primary tumor tissue and associated clinical data from patients with cSCC-HN ( n  = 278) were collected from 33 independent centers. Samples were analyzed via the 40-GEP test. Cases were staged per American Joint Committee on Cancer, Eighth Edition (AJCC8) and Brigham and Women's Hospital (BWH) criteria after comprehensive medical record and pathology report review. Metastasis-free survival (MFS) rates were determined, and risk factors were analyzed via Cox regression. Results The 40-GEP test classified the cohort into low (Class 1, n  = 126; 45.3%), moderate (Class 2A, n  = 134; 48.2%), and high (Class 2B, n  = 18; 6.5%) metastatic risk at 3 years postdiagnosis. Regional/distant metastasis occurred in 54 patients (19.4%). MFS rates were 92.1% (Class 1), 76.1% (Class 2A), and 44.4% (Class 2B; p  < .0001). Multivariate analysis of 40-GEP results with AJCC8 or BWH tumor stage, or clinicopathologic risk factors, demonstrated independent prognostic value of the 40-GEP test ( p  < .03). Accuracy of predicting metastatic risk was also improved using 40-GEP classification ( p  < .02). Conclusions Improved metastatic risk stratification through the 40-GEP test could complement cSCC-HN risk assessment for better-informed decision-making for treatment and surveillance and ultimately improve patient outcomes.

[学科分类] 环境科学（综合）

[关键词] cutaneous squamous cell carcinoma (cSCC);gene expression profile (GEP);head and neck cSCC (cSCC-HN);high-risk cSCC;metastasis risk