The PTEN tumour suppressor gene and malignant melanoma

R. Böni, A. O. Vortmeyer, G. Burg, G. Hofbauer, Z. Zhuang

Research output: Contribution to journalArticle

34 Scopus citations


A candidate tumour suppressor gene, PTEN, has recently been identified within chromosome 10q23, the locus of the Cowden syndrome/Lhermitte-Duclos disease susceptibility gene. Cowden disease is an autosomal dominant cancer predisposition syndrome associated with tumours of the breast, thyroid and, less frequently, malignant melanoma. Based on the identification of mutations in sporadic breast, brain and prostate tumours, we decided to examine the potential role of PTEN in sporadic malignant melanoma. Frozen tissue from primary cutaneous melanomas (n = 23) and metastases (n = 17) were microdissected, and microsatellite markers D10S541 and D10S547, flanking the gene on both sides, were used to search for loss of heterozygosity (LOH) in the PTEN gene locus. To identify mutations within the putative tumour suppressor gene, we performed single strand conformation polymorphism (SSCP) analysis using intronic primers to amplify exons 5, 6, 7 and 8 of the PTEN gene. No LOH was detected using the polymorphic markers D10S541 and D10S547. SSCP analysis revealed no aberrant bands in the tumour specimen. Our results suggest that the PTEN gene does not play a major role in the initiation and progression of melanoma.

Original languageEnglish (US)
Pages (from-to)300-302
Number of pages3
JournalMelanoma Research
Issue number4
StatePublished - Oct 8 1998
Externally publishedYes


  • Cowden syndrome
  • Genetic mutation
  • Malignant melanoma
  • PTEN
  • Tumour suppressor gene

ASJC Scopus subject areas

  • Oncology
  • Dermatology
  • Cancer Research

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