Cowden syndrome

Indian Journal of Gastroenterology, Nov 2015

Sridivya Parvataneni, Dhara Chaudhari, James Swenson, Mark Young

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Cowden syndrome

Indian J Gastroenterol (November-December Cowden syndrome Sridivya Parvataneni 0 1 2 Dhara Chaudhari 0 1 2 James Swenson 0 1 2 Mark Young 0 1 2 0 Dhara Chaudhari 1 Department of Gastroenterology, Quillen College of Medicine, East Tennessee State University , 178 Maple Ave, Mountain Home, TN 37684 , USA 2 Department of Internal Medicine, Quillen College of Medicine, East Tennessee State University , 178 Maple Ave, Mountain Home, TN 37684 , USA - Cowden syndrome (CS), first described in 1963, is an autosomal dominant disorder associated with mutations in the phosphatase and tensin homolog (PTEN) gene, incomplete penetrance, and variable expressivity. Gastrointestinal manifestations include intestinal ganglioneuromas and esophageal acanthosis [ 1 ]. The clinical criteria proposed by the International Cowden Consortium are used to diagnose the syndrome. The Cleveland Clinic has suggested a PTEN score calculator based on clinical manifestations to select patients for PTEN mutation testing [ 2 ]. Due to CS association with malignant diseases, early diagnosis and periodic follow up examination in patient and their family members is necessary. The images are from a 38-year-old male investigated for intermittent hematochezia. Past history was significant for lipoma, dysplastic nevi, and family history for colon cancer in father and breast cancer and benign thyroid nodules in sister. This patient had macrocephaly, with multiple polyps at colonoscopy which were all ganglioneuroma on biopsy (Fig. 1). Upper gastrointestinal endoscopy revealed diffuse esophageal glycogenic acanthosis (Fig. 2) and gastric hyperplastic polyp, and the patient was referred to genetic counseling and was positive for PTEN mutation. Fig. 1 Colonic polyps showing multiple nests predominantly in the lamina propria that contain neural tissue and ganglion cells suggestive of ganglioneuromas * 1. Coriat R , Mozer M , Caux F , et al. Endoscopic findings in Cowden syndrome . Endoscopy . 2011 ; 43 : 723 - 6 . 2. Tan MH , Mester J , Peterson C , et al. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands . Am J Hum Genet . 2011 ; 88 : 42 - 56 . (...truncated)


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Sridivya Parvataneni, Dhara Chaudhari, James Swenson, Mark Young. Cowden syndrome, Indian Journal of Gastroenterology, 2015, pp. 468-468, Volume 34, Issue 6, DOI: 10.1007/s12664-015-0602-3