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남성진,최영식,박요한,김규종,박선자 고신대학교의과대학 2008 고신대학교 의과대학 학술지 Vol.23 No.4
Cowden's disease, also known as various hamartomatous malformations of multiple organs, is a rare autosomal dominant disorder. The most important feature of Cowden's disease is an increased incidence of malignant neoplasm, particularly in the breast and thyroid gland. PTEN (phosphatase and tensin homologue deleted in chromosome 10) is a candidate tumor suppressor gene. Mutations of this gene are responsible for PTEN hamartoma tumor syndromes, including Cowden's disease, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like syndromes. After identification of PTEN as the gene for Cowden's disease, the incidence of Cowden's disease was estimated to be 1 in 200,000. However Cowden's disease with malignant neoplasm is quite rare in Korea so far. Recently we experienced a family with Cowden's disease who carry a frame shift germline mutation(C.606del T) at 10q23, exon 6 of PTEN gene. The authors report this case with literature review.
서정아 ( Jeong Ah Seo ),김규종 ( Kyu Jong Kim ),신은경 ( Eun Kyung Shin ),이은미 ( Eun Mi Lee ),문원 ( Won Moon ),박무인 ( Moo In Park ),김영옥 ( Young Ok Kim ),박선자 ( Seun Ja Park ) 대한소화기학회 2007 대한소화기학회지 Vol.49 No.3
Cowden`s disease, also known as various hamartomatous malformations of multiple organs, is a rare autosomal dominant disorder. The most important feature of Cowden`s disease is its frequent association with malignant neoplasm, particularly in the breast and thyroid gland. Cowden`s disease with malignant neoplasms, is quite rare in Korea so far. We report a case of Cowden`s disease associated with breast cancer in a 41-year-old female who underwent routine health cheek-up. (Korean J Gastroenterol 2007;49:183-186)