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Genetic mosaicism in basal cell carcinoma
Anna Asplund1, Asa Sivertsson, Helena Bäckvall
1Department of Genetics and Pathology, University Hospital, Uppsala, Sweden. anna.asplund@genpat.uu.se
Experimental Dermatology
|July 20, 2005
Summary
Basal cell cancer (BCC) is typically a monoclonal growth originating from a single cell. However, this study found that some BCCs can arise from multiple independent clones, challenging previous assumptions about BCC development.
Area of Science:
- Dermatology
- Oncology
- Genetics
Background:
- Basal cell cancer (BCC) exhibits unique growth patterns, including limited metastasis and lack of a precursor stage.
- The clonal origin of BCC has been debated due to its multifocal appearance, with some evidence suggesting a single-cell origin.
Purpose of the Study:
- To investigate the clonality of human basal cell cancer (BCC) using the X-chromosome inactivation assay.
- To determine whether BCC tumors originate from a single cell or multiple independent clones.
Main Methods:
- Laser-assisted microdissection was used to isolate epithelial and stromal components from 13 BCC tumors.
- X-chromosome inactivation analysis was performed on tumor samples to assess clonality.
- Analysis of ptch and p53 genes supported clonality findings.
Main Results:
- 12 out of 13 BCC tumors demonstrated a monoclonal epithelial origin.
- One tumor showed evidence of at least two independent monoclonal clones.
- Tumor stroma exhibited both monoclonal and polyclonal patterns.
Conclusions:
- Basal cell cancer (BCC) is generally a monoclonal neoplastic growth of epithelial cells.
- The connective tissue stroma of BCC is often of polyclonal origin.
- Occasionally, BCC may arise from multiple independent tumors, suggesting a local predisposition to malignant transformation.