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Repetitive DNA alterations in human skin cancers
Gil R H Ribeiro1, Guilherme Francisco, Lúcia V S Teixeira
1Genetics Laboratory, Butantan Institute, Avenue Vital Brasil 1500, CEP 05503-900, São Paulo, SP, Brazil.
Journal of Dermatological Science
|November 3, 2004
Summary
Repetitive DNA analysis reveals genome instability in skin cancers. Microsatellite alterations and genomic rearrangements are common in basal cell carcinoma, squamous cell carcinoma, and malignant melanoma, but not benign lesions.
Area of Science:
- Genomics
- Cancer Biology
- Molecular Genetics
Background:
- Repetitive DNA sequences are crucial for genome regulation, evolution, and chromatin structure.
- Alterations in repetitive DNA patterns are observed in various tumor types and stages.
- Skin cancers exhibit distinct genomic changes affecting repetitive sequences.
Purpose of the Study:
- To investigate genome instability in skin cancers by analyzing repetitive DNA.
- To identify specific repetitive DNA alterations in basal cell carcinoma (BCC), squamous cell carcinoma (SCC), malignant melanoma (MM), melanocytic nevus (MN), and actinic keratosis (AK).
- To assess the utility of Random Amplification of Polymorphic DNA (RAPD) and microsatellite analysis in detecting genomic changes.
Main Methods:
- DNA extraction from blood and tumor samples of 21 BCC, 7 SCC, 11 MM, and 7 other lesions.
- Analysis of banding patterns using Random Amplification of Polymorphic DNA (RAPD).
- Microsatellite instability (MSI) and loss of heterozygosity (LOH) analysis using specific markers D9S50 and D9S52 at 9p21.
Main Results:
- Microsatellite instability (MSI) and/or loss of heterozygosity (LOH) were detected in 36% of BCC, 25% of SCC, and 57% of MM tumors for D9S50.
- D9S52 microsatellite alterations were found in 28.5% of BCC, 42.8% of SCC, and 71.4% of MM.
- Genomic rearrangements by RAPD were present in 100% of all tumor types; BCC showed band gain, while MM showed band loss or decreased signal.
- No microsatellite alterations were observed in benign melanocytic nevus (MN) and actinic keratosis (AK) lesions.
Conclusions:
- Skin cancers exhibit significant genome instability characterized by microsatellite alterations and genomic rearrangements.
- RAPD is a sensitive, low-cost method for detecting genomic alterations in skin cancers.
- These findings suggest that chromosomal rearrangements, aneuploidy, and polysomies contribute to genome alterations in skin cancers, with potential diagnostic applications for RAPD.