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Soo Park, MD
Soo Park, MD
Posted: Thursday, September 12, 2024
Genomic expression and progression of cutaneous squamous cell carcinoma (SCC) may be heterogenous, based upon tumor depth, according to Hye Won Hwang, MD, of Inha University Hospital, Incheon, Republic of Korea, and colleagues. In fact, clonal mutations were found to be more prevalent in deep tumor regions of the skin, and 29 cutaneous SCC-associated causal genes were primarily expressed in deep rather than superficial layers. The findings of this cohort study were published in the International Journal of Cancer.
“We identified 236 additionally mutated genes exclusively in the deep portions of the samples, which were involved in key biological processes such as cell junction organization and cell-cell adhesion,” stated the study investigators. “The functional loss of these two processes is associated with the dermal invasion of cutaneous SCC. Our findings emphasize the importance of analyzing multiple regions of tumors.”
Tissue samples were taken from six patients with cutaneous SCC, yielding 18 tissue samples (12 tumor and 6 normal). Patients underwent 2-mm margin excision for Mohs micrographic surgery, which is considered a high-risk feature of cutaneous SCC. All patients were included prior to treatment. Samples were analyzed using genomic DNA extraction and whole-exome sequencing to identify copy number variations and mutational signatures.
A total of 8,863 nonsynonymous somatic mutations were identified in 4,092 genes across all tumors, with TTN and TP53 being the most mutated genes. The deep-portion mutations were associated with gene ontology biological processes. Additionally, clonal mutations seemed to be more prevalent in deep layers. The study found 29 causal genes associated with dermal invasion in cutaneous SCC that were primarily expressed at deep tumor depths.
The authors concluded: “Our findings emphasize analyzing multiple tumor regions to capture varied mutational landscapes. These insights advance our understanding of cutaneous SCC progression, emphasizing genetic and cellular changes during tumor evolution.”
Disclosure: The study authors reported no conflicts of interest.
International Journal of Cancer
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