Germline mutation of the PTEN gene in a Japanese patient with Cowden's disease

Citation
N. Kato et al., Germline mutation of the PTEN gene in a Japanese patient with Cowden's disease, INT J ONCOL, 18(5), 2001, pp. 1017-1022
Citations number
32
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Onconogenesis & Cancer Research
Journal title
INTERNATIONAL JOURNAL OF ONCOLOGY
ISSN journal
1019-6439 → ACNP
Volume
18
Issue
5
Year of publication
2001
Pages
1017 - 1022
Database
ISI
SICI code
1019-6439(200105)18:5<1017:GMOTPG>2.0.ZU;2-2
Abstract
Cowden's disease (CD) is an autosomal dominant disorder which confers a hig h susceptibility to diverse benign and malignant tumors. The PTEN (phosphat ase and tensin homologue deleted in chromosome ten) gene has been identifie d as a tumor suppressor gene responsible for cancers of the endometrium, ov ary, prostate, and glioblastomas. Recently, germline mutations of this gene were also found in patients with CD, and it is now recognized as a gene re sponsible for this disease. We identified a germline nonsense mutation at c odon 130 in exon 5 of PTEN in a 56-year-old Japanese woman with CD. The pat ient had adenoid facies and mucocutaneous lesions including multiple facial papules, acral keratoses on neck and shoulders, palmoplantar keratoses, mu ltiple oral papillomas, scrotal tongue, mucosal and cutaneous hemangiomas, and a sclerotic fibroma on the arm. She also had benign and malignant polyp oid neoplasms throughout the entire digestive tract, including adenocarcino ma of the colon and submucosal lipomas of the rectum, as well as bilateral breast carcinomas, multinodular goiters, an ovarian cyst with a fibroma-lik e nodule, hepatic hemangiomas, and abdominal hernia. We searched CD cases w ith the same genotypic PTEN mutation as the present case and compared their phenotypes. Further studies will disclose a better understanding of the ro le of mutation in the PTEN gene in the course of tumorigenesis of both beni gn and malignant tumors developed in patients with CD.