Identification of PTEN mutations in metastatic melanoma specimens. Issue 9 (1st September 2000)

• Record Type: Journal Article
• Authors: Çelebi, Julide Tok; Shendrik, Igor; Silvers, David N; Peacocke, Monica
• Is Part Of: Journal of medical genetics. Volume 37:Issue 9(2000)
• Page Start: 653
• Page End: 657
• Publication Date: 2000-09-01
• Subjects: PTEN -- CDKN2A -- melanoma; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.37.9.653
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : CONTEXT: PTEN, 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.