Cowden syndrome: a critical review of the clinical literature.
ABSTRACT 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.
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ABSTRACT: Diffuse intestinal ganglioneuromatosis is a hamartomatous polyposis characterized by a disseminated, intramural or transmural proliferation of neural elements involving the enteric plexuses. It has been associated with MEN II, neurofibromatosis type 1 and hamartomatous polyposis associated with phosphatase and tensin homolog mutation. We report the case of a female patient with a history of a breast and endometrial tumor who presented in a colonoscopy performed for rectal bleeding diffuse ganglioneuromatosis, which oriented the search for other characteristic findings of Cowden syndrome given the personal history of the patient. The presence of an esophagogastric polyposis was also noted. Cowden syndrome is characterized by skin lesions, but it is rarely diagnosed by these lesions, because they are usually overlooked. Intestinal polyposis is not a major diagnostic criterion but it is very useful for early diagnosis. The combination of colonic polyposis and glucogenic acanthosis should orient the diagnosis to Cowden syndrome.World journal of gastrointestinal oncology. 02/2013; 5(2):34-7.
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ABSTRACT: The genetic pathogenesis of colorectal cancer is now well understood: it is a multistep process that causes a normal cell to acquire features of adenomatous change and, finally, malignancy as mutations in specific genes accumulate. Stool tests for identifying the presence of these mutations are now available as a colorectal cancer screening tool but are not widely used. Inheritance is an important factor in up to one third of colorectal cancer cases. The genetic etiol-ogy for most of these cases is not yet known, and screening is based upon the severity of familial risk. A small fraction of colorectal cancer cases belong to one of the single gene inherited syndromes with high colorectal cancer risks. The most important of these syndromes are familial adenomatous polyposis, which arises from inherited mutations of the adenomatosis polyposis coli gene, and hereditary nonpolyposis colorectal cancer (or Lynch syndrome), which occurs when one of the mismatch repair genes is inherited with a mutation. There are also several hamartomatous polyposis syndromes associ-ated with colorectal and other cancers. The genetic etiology of these syndromes is now also known. Genetic testing is available for the diagnosis of each of the inherited syndromes, and surveillance and management guidelines have been given. C olorectal cancer (CRC) is the second most common cause of cancer-related mortality in the United States, with 149,000 new cases and 77,000 deaths annually. The life-time risk for CRC is approximately 6% in both men and women. 1 The causes of CRC include environmental and inherited factors and a combination of each. Approximately one third of CRCs arise from inheritable factors, and up to 3% belong to one of the well-characterized inherited syndromes. The genetics of these syndromes are now well understood and have helped to define the pathogenesis of all CRCs. This understanding has, in turn, provided stool tests for the diagnosis of CRC and genetic tests for diagnosis of the syndromes and is expected to lead to better preventive and therapeutic approaches to this malignancy.Gastroenterology & Hepatology Volume. ; 5.
Article: A Papillary Thyroid Tumor Detected by 18 F-FDG-PET/CT in a Pediatric Patient with Cowden SyndromeNuclear Medicine and Molecular Imaging 01/2013;