Cowden Syndrome: A Critical Review of the Clinical Literature

ArticleinJournal of Genetic Counseling 18(1):13-27 · November 2008with43 Reads
DOI: 10.1007/s10897-008-9187-7 · Source: PubMed
Cowden syndrome (CS) is a multi-system disease involving hamartomatous overgrowth of tissues of all three embryonic origins and increased risks for thyroid, breast and possibly other cancers. Benign breast, thyroid, uterine and skin lesions are also common. Approximately 80% of patients with CS have an identifiable germline mutation in the PTEN gene. The majority of the existing data on the frequencies of component clinical features have been obtained from compilations of case reports in the literature, many of which predate the establishment in 1996 of consensus diagnostic criteria. Many of these reports also suffer from ascertainment bias which emphasized the dermatologic features of the disease. This paper presents an overview of Cowden syndrome focusing on a critical evaluation of the major literature on the component cancers, benign features, and molecular findings in CS, noting the limitations of the published data.
    • "Cowden syndrome was first described in 1963 by Lloyd and Dennis as a dominantly inherited disease that is associated with increased risks for benign and malignant tumours [1]. Cowden syndrome reportedly affects approximately one in every 200 000 individuals, according to a statement issued by the National Comprehensive Cancer Network. "
    [Show abstract] [Hide abstract] ABSTRACT: Cowden syndrome is a phosphatase and tensin homologue on chromosome ten (PTEN) hamartoma tumour syndrome. The loss of function of the PTEN protein is associated with the risk of development and progression of several types of tumours, such as pulmonary neuroendocrine tumours and carcinoids. We present a 65-year old male non-smoker, who was diagnosed with Cowden syndrome and had a pulmonary tumour. He underwent wedge resection via video-assisted thoracoscopic surgery and was histopathologically diagnosed with an atypical carcinoid. To our knowledge, this is the first report on a pulmonary atypical carcinoid in a patient with Cowden syndrome. The present findings suggest a potential link between phosphoinositide-3 kinase/protein kinase B signalling in Cowden syndrome and the development of pulmonary neuroendocrine tumours, such as carcinoids.
    Full-text · Article · Feb 2016
    • "This case presentation describes two patients with Cowden Syndrome and germline PTEN mutations who were diagnosed with pulmonary neuroendocrine tumors. Both patients had the characteristic phenotype of Cowden Syn- drome [1, 2,456. Case 1 had breast cancer, macrocephaly, thyroid adenoma, and a positive family history of Cowden Syndrome. "
    [Show abstract] [Hide abstract] ABSTRACT: Cowden Syndrome is a rare autosomal dominantly inherited disorder. Patients with Cowden Syndrome are at increased risk of various benign and malignant neoplasms in breast, endometrium, thyroid, gastrointestinal tract, and genitourinary system. Neuroendocrine tumors are ubiquitous neoplasms that may occur anywhere in the human body. Bronchopulmonary neuroendocrine tumors include four different histological subtypes, among these, typical and atypical pulmonary carcinoids. No association between Cowden Syndrome and neuroendocrine tumors has previously been described. We present two cases of Cowden Syndrome that were diagnosed with pulmonary carcinoids.
    Full-text · Conference Paper · Dec 2015
    • "However, the characteristics of these polyps are unclear, and they are difficult to detect with conventional examination, including double-contrast X-ray study, due to the small size of the polyps and the fact that they do not protrude much [6]. These polyps have been histopathologically found to be hamartomatous or hyperplastic polyps [2]. CE allows for endoscopic imaging of the entire small bowel without dis- comfort [15]. "
    [Show abstract] [Hide abstract] ABSTRACT: Cowden syndrome is an uncommon, autosomal dominant disease characterized by multiple hamartomas and hyperplastic lesions in the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. About 30% of Cowden syndrome cases are reportedly complicated by malignant diseases. Hamartomatous polyps occur throughout the gastrointestinal tract, the most common sites being the stomach, colon, esophagus, and duodenum. Small bowel polyps can occur in Cowden syndrome; however, they are difficult to detect by conventional examination, including double-contrast X-ray study. Here, we report three cases of Cowden syndrome with small bowel polyps, which were detected by capsule endoscopy. The small bowel polyps of Cowden syndrome frequently occur at the oral end of the small bowel, especially in the duodenum and jejunum, and their color is similar to that of the surrounding mucosa; additionally, the polyps are relatively small (2-5 mm). Capsule endoscopy is useful for detecting small bowel polyps in Cowden syndrome.
    Full-text · Article · Jul 2015
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