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Published on: November 2, 2020
Identification of dysregulated genes in cutaneous squamous cell carcinoma
Chantip Dang1, Marc Gottschling, Kizzie Manning
1Department of Dermatology, Charité, Skin Cancer Center Charité, University Hospital of Berlin, Berlin, Germany.
Abstract:
Carcinogenesis is a multi-step process resulting from the accumulation of genetic mutations and subsequently leading to dysregulated genes, but the number and identity of differentially expressed genes in cutaneous squamous cell carcinoma (SCC) is unknown at present. In order to identify dysregulated genes, we examined the relative mRNA expression present in cutaneous SCC and its precursor lesion actinic keratosis (AK) by comparison to normal skin. Snap frozen biopsies from 20 specimens of normal skin, 10 AK, and 10 cutaneous SCC were examined. Total-RNA was extracted, reversely transcribed, and 14 genes were investigated using gene-specific intron-flanking primers and quantitative real-time reverse transcription PCR. Specificity was confirmed by sequencing of the PCR amplicons. Ten of 14 genes were significantly dysregulated in AK and/or cutaneous SCC by comparison to normal skin. The genes CNN2, COX4I1, COX5B, COX7C, CRLF3, CTSC, NDRG1, and LMNA showed increased expression in skin cancer (p < 0.02), while RPL15 and LGTN were down-regulated (p < 0.03). The genes differentially expressed during skin carcinogenesis may prove useful in order to understand the origin and progression of cutaneous SCC and for diagnostic approaches.
Insights
Researchers identified key genes involved in skin cancer development. Ten of 14 investigated genes showed altered expression in actinic keratosis and cutaneous squamous cell carcinoma, offering insights into skin carcinogenesis.
Area of Science:
- Oncology
- Molecular Biology
- Dermatology
Background:
- Carcinogenesis involves genetic mutations and gene dysregulation.
- The specific genes involved in cutaneous squamous cell carcinoma (SCC) development are not fully understood.
Purpose of the Study:
- To identify differentially expressed genes in cutaneous SCC and its precursor, actinic keratosis (AK), compared to normal skin.
- To understand the molecular basis of skin carcinogenesis.
Main Methods:
- Quantitative real-time reverse transcription PCR was used to analyze mRNA expression.
- Gene expression was compared between normal skin, AK, and SCC samples (n=20, 10, 10).
- RNA was extracted from snap-frozen biopsies, and 14 specific genes were investigated.
Main Results:
- Ten out of 14 genes were significantly dysregulated in AK and/or SCC.
- Increased expression was observed for CNN2, COX4I1, COX5B, COX7C, CRLF3, CTSC, NDRG1, and LMNA.
- Down-regulation was noted for RPL15 and LGTN.
Conclusions:
- Several genes are differentially expressed during skin carcinogenesis.
- These identified genes may aid in understanding SCC origin and progression.
- The findings could contribute to developing new diagnostic approaches for skin cancer.
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