A candidate tumour suppressor gene, PTEN, has recently been identified
within chromosome 10q23, the locus of the Cowden syndrome/Lhermitte-D
uclos disease susceptibility gene. Cowden disease is an autosomal domi
nant cancer predisposition syndrome associated with tumours of the bre
ast, thyroid and, less frequently, malignant melanoma. Based on the id
entification of mutations in sporadic breast, brain and prostate tumou
rs, we decided to examine the potential role of PTEN in sporadic malig
nant melanoma. Frozen tissue from primary cutaneous melanomas (n = 23)
and metastases (n = 17) were microdissected, and microsatellite marke
rs D10S541 and D10S547, flanking the gene on both sides, were used to
search for loss of heterozygosity (LOH) in the PTEN gene locus. To ide
ntify mutations within the putative tumour suppressor gene, we perform
ed single strand conformation polymorphism (SSCP) analysis using intro
nic primers to amplify exons 5, 6, 7 and 8 of the PTEN gene. No LOH wa
s detected using the polymorphic markers D10S541 and D105547. SSCP ana
lysis revealed no aberrant bands in the tumour specimen. Our results s
uggest that the PTEN gene does not play a major role in the initiation
and progression of melanoma. (C) 1998 Lippincott Williams & Wilkins.