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J Med Genet. 2000 September; 37(9): 653–657.
PMCID: PMC1734683

Identification of PTEN mutations in metastatic melanoma specimens


CONTEXTPTEN, a tumour suppressor gene located on chromosome 10q23, develops somatic mutations in various tumours and tumour cell lines including brain, endometrium, prostate, breast, kidney, thyroid, liver, and melanoma.
OBJECTIVES—To investigate the mutational profile of this gene further, as well as its role in tumour progression in melanoma.
DESIGN, SETTINGS—We examined 21 metastatic melanoma samples for 10q23 allelic losses and PTEN sequence alterations. Additionally, we screened these samples for mutations in CDKN2A, a gene in which alterations are well documented in primary melanoma as well as in the germline of familial melanoma.
RESULTS—Loss of heterozygosity (LOH) at 10q23 was observed in 33% (7/21) of the samples tested. We identified four sequence alterations in PTEN (19%) and two in CDKN2A (9.5%). Of interest, only one case showed mutations in both genes.
CONCLUSIONS—These data support the notion that PTEN alterations occur in some metastatic melanomas, and that mutation of this gene plays a role in the progression of some forms of melanoma.

Keywords: PTEN; CDKN2A; melanoma

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Selected References

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