ISSN:
1530-0358
Keywords:
PTEN
;
Cowden disease
;
Gingival papilloma
;
Esophageal papilloma
;
Juvenile polyp
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract PURPOSE:PTEN is a candidate tumor suppressor gene for mutations which are responsible for Cowden disease. Recently, it has been shown thatPTEN is mutated in several human neoplasms. To investigate the role ofPTEN in tumorigenesis, we screened its mutation in Japanese patients with gastrointestinal polyposis and various sporadic tumors. METHODS: The entire coding region ofPTEN was screened by single strand conformational polymorphism or direct sequencing for somatic mutations in 16 gingival papillomas, 4 juvenile polyps, 10 esophageal papillomas, and 20 colorectal cancers and for germline mutations in three patients with Cowden disease (including one with Lhermitte-Duclos disease) and one patient each with juvenile polyposis syndrome, Turcot's syndrome, and Cronkhite-Canada syndrome. RESULTS: Germline mutations were found in all cases of Cowden disease. One mutation was a nonsense mutation at codon 130 (CGA→TGA), and the other two were splice site mutations at the 5′ site of intron 4 and the 3′ site of intron 8. We could not detect germline mutations in other patients with gastrointestinal polyposis or somatic mutations in sporadic tumors. CONCLUSIONS: We confirmed previous reports that germline mutations inPTEN are responsible for Cowden disease. However, somatic mutations ofPTEN may not play a major role in tumorigenesis, at least in colorectal cancers, esophageal papillomas and gingival papillomas.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02237223
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