TY - JOUR
T1 - Analysis of the PTEN gene mutation in polyposis syndromes and sporadic gastrointestinal tumors in Japanese patients
AU - Negoro, Kenichi
AU - Takahashi, Seiiti
AU - Kinouchi, Yoshitaka
AU - Takagi, Sho
AU - Hiwatashi, Nobuo
AU - Ichinohasama, Ryo
AU - Shimosegawa, Tooru
AU - Toyota, Takayoshi
PY - 2000/1/1
Y1 - 2000/1/1
N2 - PURPOSE: PTEN is a candidate tumor suppressor gene for mutations which are responsible for Cowden disease. Recently, it has been shown that PTEN is mutated in several human neoplasms. To investigate the role of PTEN in tumorigenesis, we screened its mutation in Japanese patients with gastrointestinal polyposis and various sporadic tumors. Methods: The entire coding region of PTEN 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 in PTEN are responsible for Cowden disease. However, somatic mutations of PTEN may not play a major role in tumorigenesis, at least in colorectal cancers, esophageal papillomas and gingival papillomas.
AB - PURPOSE: PTEN is a candidate tumor suppressor gene for mutations which are responsible for Cowden disease. Recently, it has been shown that PTEN is mutated in several human neoplasms. To investigate the role of PTEN in tumorigenesis, we screened its mutation in Japanese patients with gastrointestinal polyposis and various sporadic tumors. Methods: The entire coding region of PTEN 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 in PTEN are responsible for Cowden disease. However, somatic mutations of PTEN may not play a major role in tumorigenesis, at least in colorectal cancers, esophageal papillomas and gingival papillomas.
KW - Cowden disease
KW - Esophageal papilloma
KW - Gingival papilloma
KW - Juvenile polyp
KW - PTEN
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U2 - 10.1007/bf02237223
DO - 10.1007/bf02237223
M3 - Article
C2 - 11052475
AN - SCOPUS:0033793659
VL - 43
SP - S29-S33
JO - Diseases of the Colon and Rectum
JF - Diseases of the Colon and Rectum
SN - 0012-3706
IS - 10 SUPPL.
ER -