1677 Few Bumps in the Road Led to Surgical Prophylaxis: Cowden’s Syndrome

Abstract

INTRODUCTION: PTEN syndrome is caused by a germline mutation in phosphatase and tensin homolog (PTEN) gene. As a syndrome, it has different clinical manifestations, Cowden syndrome being one of them. We present the case of a 41-year-old female found to have multiple polyps throughout the large and small bowel. Biopsy showed hamartomous type polyps and ganglioneuromas. Genetic testing revealed de novo PTEN mutation. CASE DESCRIPTION/METHODS: 41-year-old female presented with acute diarrhea to the emergency department. Medical history was relevant for hypothyroidism secondary to thyroidectomy for goiter and multiple skin tags. Colonoscopy showed the small and large bowel carpeted with polyps and biopsies were taken. Pathology showed hamartomatous-type polyps and ganglioneuromas. Genetic testing was positive for PTEN de novo mutation. A multidisciplinary team was involved in the case for cancer surveillance. Estrogen/progesterone receptor positive and HER2-negative invasive lobular carcinoma was found after bilateral prophylactic mastectomy. Follow up endoscopy showed small esophageal nodules and multiple gastroduodenal polyps found to be hyperplastic on pathology. Hysterectomy is planned with subsequent Arimidex as adjuvant therapy. DISCUSSION: First reported in 1963, Cowden syndrome has a prevalence of 1 in 200,000–250,000 with 20–34% of individuals having germline PTEN mutation. PTEN acts as a tumor suppressor. A mutation of this gene leads to an increased prevelance of a variety of malignancies (colorectal, breast, thyroid, renal, endometrial skin, and brain) and non-neoplastic growths (trichilemmoma, papules, acral keratosis). The purpose of bringing attention to this very rare polyposis syndrome is increase awareness about the multidisciplinary approach needed for cancer surveillance. Annual physical exam should be performed starting at age 18; baseline screening colonoscopy at age 35 with follow up screening earlier than 5 years. Annual urinalysis and cytology to screen for renal cancer is recommended to start at age 35. Surveillance for thyroid cancer includes baseline thyroid ultrasound starting at age 18, and then annual thyroid exams thereafter. Women with PTEN mutations should have annual breast cancer screening starting at age 25. Our patient was advised to undergo appropriate cancer surveillance according to the National Cancer Center Network guidelines.