Cowden Syndrome的文獻回顧

Review of Cowden Syndrome

關博文(Pok-Man Kuan)

指導教授 ： 賴妍倩 ； 李婉芬

中山醫學大學/醫學科技學院/醫學檢驗暨生物技術學系碩士班/碩士(2018年)

摘要

Cowden Syndrome (CS) 是一種罕見的自體染色體顯性遺傳病，以多發性錯構瘤為特徵，CS患者皮膚、口腔黏膜、甲狀腺、乳腺及胃腸道等惡性腫瘤的發生率明顯增高。在80% CS的患者中發生PTEN基因突變，其餘患者亦涉及KLLN、SDH、PIK3CA和AKT1基因突變。本文的目的是通過文獻回顧，探討CS的臨床特徵、基因突變、診斷標準、醫療管理及治療。

關鍵字

Cowden Syndrome ； 多發性 ； 錯構瘤症候群 ； PTEN

並列摘要

Cowden Syndrome (CS) is a rare autosomal dominant inherited disease characterized by benign hamartomatous lesions. CS patients have a higher risk of mucocutaneous, thyroid, breast, gastrointestinal cancers. PTEN mutations occurred in 80% of CS patients, and the remaining patients also involved with KLLN, SDH, PIK3CA, and AKT1 mutations. The purpose of this article is to describe the clinical features, gene mutations, diagnostic criteria, medical management, and treatment of CS by literature review.

並列關鍵字

Cowden Syndrome ； multiple ； hamartomatous syndrome ； PTEN

參考文獻

參考文獻 (Reference)

1. Abel, T. W., Baker, S. J., Fraser, M. M., et al. (2005). Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. Journal of Neuropathology & Experimental Neurology, 64(4), 341-349.

2. Agarwal, R., Liebe, S., Turski, M. L., et al. (2015). Targeted therapy for genetic cancer syndromes: Von Hippel-Lindau disease, Cowden syndrome, and Proteus syndrome. Discovery medicine, 19(103), 109-116.

3. Alnajjar, H. M., Sahai, A., Keane, A., & Gordon, S. (2011). Testicular pain as a presentation of Cowden syndrome. The Annals of The Royal College of Surgeons of England, 93(5), e51-e52.

4. Bardella, C., Pollard, P. J., & Tomlinson, I. (2011). SDH mutations in cancer. Biochimica et Biophysica Acta (BBA)-Bioenergetics, 1807(11), 1432-1443.