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Updated: Nov 29, 2025

Characterization of In Vitro Differentiation of Human Primary Keratinocytes by RNA-Seq Analysis
Published on: May 16, 2020
Epigenetic Alterations in Keratinocyte Carcinoma
Qiuming Yao1, Charles B Epstein2, Samridhi Banskota2
1Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Epigenetic changes in histone acetylation reveal distinct regulatory elements and pathways in basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). These findings offer new targets for keratinocyte carcinoma drug discovery.
Area of Science:
- Dermatology
- Epigenetics
- Oncology
Background:
- Basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) originate from epidermal keratinocytes but exhibit diverse phenotypes.
- Understanding epigenetic alterations, particularly histone modifications, is crucial for elucidating keratinocyte carcinogenesis.
Purpose of the Study:
- To investigate changes in the enhancer-associated histone acetylation mark H3K27ac in BCC and SCC.
- To identify cancer-specific enhancers and altered biological pathways in these skin cancers.
Main Methods:
- Analysis of matched tumor-normal pairs from 11 patients (5 BCC, 6 SCC) undergoing Mohs surgery.
- Mapping differential H3K27ac peaks to identify cancer-specific enhancers.
- Pathway enrichment analysis and transcription factor identification.
Main Results:
- Identified cancer-specific enhancers based on differential H3K27ac peaks.
- Found enriched epidermal development and Wnt signaling pathways in BCCs.
- Observed enriched immune response and cell activation pathways in SCCs, implicating SMAD, JDP2, and FOXP1 transcription factors.
Conclusions:
- Highlighted unique and shared epigenetic alterations in histone modifications for BCC and SCC.
- Prioritized key regulatory loci (FGFR2, FOXP1, WNT5A) for further investigation.
- Findings provide a foundation for targeted drug discovery in keratinocyte carcinomas.
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