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Updated: Oct 19, 2026

Cell Population Analyses During Skin Carcinogenesis
Published on: August 21, 2013
Expression of sonic hedgehog signal transducers, patched and smoothened, in human basal cell carcinoma
1Department of Cell Science, Institute of Biomedical Sciences, Fukushima Medical University School of Medicine, Fukushima City, Japan. tojo@cc.fmu.ac.jp
Abstract:
In basal cell nevus syndrome (BCNS) patients, mutations of a gene, patched (ptc), which encodes a putative signal transducer of sonic hedgehog protein (SHH), were found and are thought to be one of the major causes of BCNS. The SHH signaling pathway is an important developmental pathway, and ptc protein (PTC) is a suppressive component serving as a receptor for the secreted SHH. Another transmembrane protein, smoothened (SMO), forms a complex with PTC and regulates this signaling pathway. Recent transgenic studies have strengthened the importance of the SHH signaling system in the etiology of basal cell carcinoma (BCC). In this study, we examined the expression patterns of mRNA for ptc and smo in two different BCC subtypes and normal skin. We found that the expressions of ptc and smo mRNA were enhanced in the tumor nests of the nodular BCC, especially at the advancing portions, but were under the detectable level in the superficial BCC cases examined, indicating that ptc and smo mRNA expressions might be associated with BCC tumor progression and divide the BCC histologic types into two subtypes, superficial and nodular types. In addition, no obvious signals for ptc and smo mRNA were detected in the normal human epidermis, appendages, or seborrheic keratosis, indicating that the abnormal proliferation of follicular epithelial cells caused by ptc, smo and/or other genetic changes, which also cause ptc and smo overexpressions, might result in BCC tumor formation.
Insights
Mutations in patched (PTC) and smoothened (SMO) genes are linked to basal cell carcinoma (BCC). Enhanced PTC and SMO mRNA expression in nodular BCC suggests a role in tumor progression, differentiating it from superficial BCC.
Area of Science:
- Oncology
- Developmental Biology
- Genetics
Background:
- Basal cell carcinoma (BCC) is linked to mutations in the patched (PTC) gene, a key component of the sonic hedgehog (SHH) signaling pathway.
- The SHH pathway, involving PTC and smoothened (SMO) proteins, is crucial in development and implicated in BCC etiology.
- Previous studies highlight the SHH signaling system's importance in basal cell carcinoma development.
Purpose of the Study:
- To investigate the expression patterns of patched (PTC) and smoothened (SMO) mRNA in different subtypes of basal cell carcinoma (BCC) and normal skin.
- To determine if PTC and SMO mRNA expression levels correlate with BCC tumor progression and histologic subtypes.
Main Methods:
- Examined mRNA expression of ptc and smo genes in nodular and superficial BCC subtypes.
- Compared gene expression in tumor tissues with normal human epidermis, appendages, and seborrheic keratosis.
Main Results:
- PTC and SMO mRNA expression were significantly enhanced in the tumor nests of nodular BCC, particularly at advancing edges.
- PTC and SMO mRNA expression were below detectable levels in superficial BCC cases studied.
- No significant PTC or SMO mRNA signals were detected in normal human epidermis, appendages, or seborrheic keratosis.
Conclusions:
- Enhanced PTC and SMO mRNA expression may be associated with the progression of nodular BCC, distinguishing it from superficial BCC.
- Abnormal proliferation of follicular epithelial cells, potentially driven by PTC/SMO genetic changes and overexpression, may lead to BCC formation.
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