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CDKN2A mutation and deletion status in thin and thick primary melanoma
A R Cachia1, J O Indsto, K M McLaren
1Department of Tissue and Cell Pathology, Institute of Clinical Pathology and Medical Research, Westmead Hospital, New South Wales, Australia.
Summary
Mutations in the CDKN2A gene are rare in sporadic melanoma. However, loss of heterozygosity at 9p21 is more common in thick melanomas, suggesting its role in tumor progression.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Chromosome 9p21 harbors the CDKN2A tumor suppressor gene, frequently altered in melanoma.
- While germline mutations are found in familial melanoma, somatic mutations in sporadic cases are infrequent.
Purpose of the Study:
- To investigate CDKN2A gene mutations and 9p21 alterations in sporadic primary melanomas.
- To determine the role of CDKN2A inactivation in melanoma initiation versus progression.
Main Methods:
- Examined 39 sporadic primary melanomas for CDKN2A mutations using single-strand conformational polymorphism and direct sequencing.
- Assessed loss of heterozygosity at the 9p21 microsatellite marker D9S942.
Main Results:
- No intragenic mutations of the CDKN2A gene were detected in any of the sporadic melanomas.
- Loss of heterozygosity at D9S942 was observed in 35% of thick melanomas (>3 mm) but in none of the thin melanomas (<0.75 mm).
Conclusions:
- Intragenic mutation of CDKN2A is an uncommon event in sporadic primary melanoma.
- Loss of heterozygosity at 9p21 in thicker melanomas suggests involvement of CDKN2A or other tumor suppressors in melanoma progression, not initiation.