Introduction

Cowden syndrome is a cancer predisposition syndrome caused by pathogenic variants in PTEN. The affected patients possess an increased risk of breast, thyroid, renal, colorectal, endometrial cancers as well as malignant melanoma. Thus prophylactic surveillance and follow up is crucial for these patients.

Methods

A review of the literature including existing guidelines from the years 1996 until 2017 was carried out. In total, 2078 scientific papers were identified through database searches on Cowden syndrome. Among these, 11 manuscripts were included based on scientific relevance and quality.

Expert consensus was reached to define management guidelines.

Results

The literature revealed a high risk of cancer in specific organs for patients diagnosed with Cowden Syndrome. Alternative management guidelines were proposed and discussed.

Conclusions

Here we propose a revised set of management guidelines for patients with Cowden syndrome in Denmark to address the increased risk of various cancer types.

中文翻译：

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丹麦修订版《考登综合症患者癌症监测指南》。

介绍

考登综合症是由PTEN中的致病变异引起的癌症易感综合症。受影响的患者患乳腺癌，甲状腺癌，肾癌，结肠直肠癌，子宫内膜癌以及恶性黑色素瘤的风险增加。因此，对这些患者进行预防性监测和随访至关重要。

方法

对包括1996年至2017年的现有指南在内的文献进行了审查。通过数据库搜索获得有关Cowden综合征的总共2078篇科学论文。其中，根据科学相关性和质量，收录了11篇手稿。

已达成专家共识以定义管理准则。

结果

文献表明，确诊为考登综合症的患者在特定器官中罹患癌症的风险很高。提出并讨论了替代管理指南。

结论

在这里，我们提出了一套针对丹麦考登综合症患者的修订管理指南，以应对各种癌症类型增加的风险。