On May 12, 2026 SkylineDx, an innovative company specializing in molecular diagnostics for dermatology, reported data from two oral and one e-poster presentation, focusing on CSCC, at the 83rd Society for Investigative Dermatology Annual Meeting, taking place May 13-16, in Chicago. The presentations will showcase findings from a comprehensive genomic and transcriptomic characterization of CSCC, including driver mutations and genetic alterations in HLA class I genes, and a new gene expression signature associated with metastatic risk.

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CSCC is the second most common form of skin cancer worldwide1, and while most tumors are not life-threatening, 2-5% of patients develop metastases². A major unmet clinical need is to identify this subset of patients who will eventually develop metastatic disease. Achieving this has been challenging because CSCC is not included in most cancer registries and was left out of large-scale consortia projects. Within the framework of an international collaboration of top research institutions, the Erasmus Medical Center, Rotterdam, the University of California, San Francisco, and SkylineDx sought to characterize the genomic and transcriptomic drivers of CSCC metastasis to inform future development in clinical settings.

Oral Presentations:

"Comprehensive genomic characterization of cutaneous squamous cell carcinoma"

To better understand what causes some CSCCs to progress to metastatic disease, four national databases in the Netherlands were integrated to assemble a cohort of clinically annotated tumors linked to outcome. RNA-sequencing was performed on 366 tumors, and whole-exome sequencing was performed on 147 tumors. Findings provide a new, more detailed molecular picture of CSCC and identify which biomarkers can be associated with poor prognosis – providing better insights into tumor biology.

"Genetic alterations of HLA class I genes in cutaneous squamous cell carcinoma"

CSCCs exhibit high mutation burden and are highly immunogenic; however, mutations affecting antigen presentation have not been systematically characterized. To address this knowledge gap, the role of germline HLA diversity in cancer susceptibility was first examined. Next, it was investigated whether HLA genes are also subject to somatic selection during CSCC tumorigenesis. The findings suggest that a reduced baseline capacity for antigen presentation, inherited by germline HLA alleles, and/or the acquired loss of antigen presentation, through somatic alterations, promote keratinocyte carcinogenesis.

E-Poster:

"Gene expression predicts metastatic risk in low-risk cutaneous squamous cell carcinoma."

SCCore GEP, a novel gene expression signature for CSCC, addresses the need for improved metastatic risk stratification, as more than one-third of metastases occur in patients initially classified as "low risk" (T1, T2a), which represents 90% of patients. This SCCore GEP gene expression signature may enable more precise risk stratification by revealing biological risk factors that extend beyond traditional clinical and pathological features as represented by the staging systems.

"The Cancer Genome Atlas and other large-scale sequencing consortia overlooked CSCC, despite it being one of the most common forms of cancer Worldwide. Our study is the largest omics characterization of CSCC to date, which will serve as a major resource to the research community," said Hunter Shain, Associate Professor, Department of Dermatology and Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco. "Already, we have discovered promising biomarkers that complement and/or outperform established staging systems. I look forward to seeing how else this rich dataset will foster discovery in this historically neglected area of cancer research."

"CSCC patients stand to benefit from an improved risk stratification that can identify those at highest risk of poor outcomes, such as metastasis3," said SkylineDx CEO Dharminder Chahal. "Building on our experience in melanoma, we are striving to develop molecular diagnostic solutions for CSCC that enhance currently available risk stratification measures such as staging systems and nomograms based on clinicopathological factors, to ultimately improve patient outcomes."

(Press release, SkylineDx, MAY 12, 2026, View Source [SID1234665574])