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Abstract：
PTEN Hamartoma Tumour Syndrome (PHTS) encompasses diverse clinical phenotypes, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome. This autosomal dominant genetic predisposition with high penetrance arises from heterozygous germline variants in the PTEN tumour suppressor gene, leading to dysregulation of the PI3K/AKT/mTOR signalling pathway, which promotes the overgrowth of multiple and heterogenous tissue types. Clinical presentations of CS range from benign and malignant disorders, affecting nearly every system within the human body. CS is the most diagnosed syndrome among the PHTS group, notwithstanding its weak incidence (1:200,000), for which it is considered rare, and its precise incidence remains unknown among other important factors. The literature is notably inconsistent in reporting the frequencies and occurrences of these disorders, adding an element of bias and uncertainty when looking back at the available research. In this review, we aimed to highlight the significant disparities found in various studies concerning CS and to review the clinical manifestations encountered in CS patients. Furthermore, we intended to emphasize the great significance of early diagnosis as patients will benefit from a longer lifespan while being unceasingly advised and supported by a multidisciplinary team.
摘要：
PTEN错构瘤肿瘤综合征（PHTS）包括不同的临床表型，包括考登综合征（CS），Bannayan-Riley-Ruvalcaba综合征（BRRS），变形杆菌综合征（PS），和变形杆菌样综合征。这种具有高外显率的常染色体显性遗传易感性来自PTEN肿瘤抑制基因中的杂合种系变异，导致PI3K/AKT/mTOR信号通路失调，这促进了多种和异质组织类型的过度生长。CS的临床表现包括良性和恶性疾病，影响人体的几乎每一个系统。CS是PHTS组中诊断最多的综合征，尽管发病率很低(1:200,000)，它被认为是罕见的，在其他重要因素中，其确切发病率仍然未知。文献在报告这些疾病的频率和发生方面明显不一致，在回顾现有研究时，增加了偏见和不确定性的因素。在这次审查中,我们旨在强调在各种CS研究中发现的显著差异,并回顾CS患者的临床表现.此外，我们旨在强调早期诊断的重要意义,因为在多学科团队的不断建议和支持下,患者将受益于更长的寿命.
