유방암과 갑상선암이 동반된 Cowden 증후군 1예
A Case of Cowden Syndrome Associated with Breast Cancer and Thyroid Cancer
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초록
Cowden 증후군은 염색체 10q23에 위치한 PTEN 유전자의 돌연변이와 연관된 상염색체 우성으로 유전되는 질환으로 피부, 점막, 유방, 갑상선 그리고 위장관 등에 다발성의 과오종성 병변이 발생하여 다발성 과오종 증후군으로도 불린다. 특히 유방과 갑상선에서는 악성 종양의 발생과 관련이 있다. 하지만, 아직까지 국내에서 유방암과 갑상선암이 동반된 Cowden 증후군의 보고는 없었다. 저자 등은 과거에 유방암과 갑상선암으로 진단받고 수술 치료한 환자가 소화기 증상으로 내원하여 위장관에 다발성 용종, 자궁의 평활근종 그리고 전형적인 피부병변을 동반하여 유방암과 갑상선암을 동반한 Cowden 증후군으로 진단한 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.
Abstract
Cowden syndrome, which is also known as 'multiple hamartoma syndrome', is an autosomal dominant condition with variable expression resulting from a mutation in the PTEN gene on the chromosome arm, 10q23. Cowden syndrome causes hamartomatous neoplasms of the skin and mucosa, breast, thyroid, and gastrointestinal tract, and is associated with the development of several types of malignancy. In particular, a marked increase in the incidence of breast carcinoma in women and of thyroid carcinoma in both men and women has been reported. We report a case of Cowden syndrome associated with both carcinomas with a review of the relevant literature. (Korean J Gastrointest Endosc 2006;32:293 297)
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