Imaging transcriptomics in basal cell carcinoma: Coupling in vivo tumor morphology with gene expression.

Combining spatial and molecular information enhances understanding of skin cancer biology. In this exploratory study, we investigated such associations in basal cell carcinoma (BCC) using 2 non-invasive approaches: line-field confocal optical coherence tomography (LC-OCT) to assess tumor morphology and tape stripping for gene expression profiling. With development, this combined image-transcriptomic approach could contribute to understanding of BCC pathogenesis in vivo. Histology-confirmed BCCs (n = 53) and control skin were scanned with LC-OCT for 44 morphological features and sampled via tape stripping for mRNA analysis. Differentially expressed genes were identified and examined through pathway-enrichment to uncover mechanisms. Seven LC-OCT image-features were associated with BCC compared with control skin (P ≤ .004). Seventy-two differentially expressed genes were identified in BCC (false discovery rate <0.001). A subset of 27 differentially expressed genes correlated with 2 LC-OCT features-the millefeuille pattern and collagen alterations-showing a 3.9 - to 11.8-fold increase in gene expression levels. Pathway-enrichment analysis highlighted BCL2A1, linked to tumorigenesis, in association with the millefeuille pattern, and FMO2, involved in collagen synthesis, with collagen alterations. This imaging-transcriptomic approach confirms the feasibility of tape stripping for detecting BCC-specific gene expression and introduces LC-OCT-based imaging transcriptomics, for investigating BCC pathobiology in vivo.