Gastrointestinal Cancers in a Peutz-Jeghers Syndrome Family: A Case Report
A 17-year-old male patient was diagnosed as PJS because of dark pigmented macules on the lips and multiple hamartomatous polyps in the stomach, duodenum, and colon. He had anemia and underwent polypectomy in the duodenum and colon. His maternal grandfather, mother, two uncles and two cousins were patients with PJS (). One uncle had died of lung cancer at the age of 32. His mother used to be screened with endoscopy to remove large polyps.\nOne and half years later, he underwent jejunal segmental resection due to intussusceptions. Thereafter, he underwent gastroduodenoscopy and colonoscopy every 2 to 3 years.\nWhen he was 23 years old, colonoscopic polypectomy was done and high-grade dysplasia was found in colonic polyp. Simultaneously, his mother presented abdominal discomfort at the age of 51. Computed tomography (CT) scan showed a 3-cm sized multiseptated cystic lesion with enhanced nodular portion in the pancreas (). To make sure ductal communications of the lesion and to reveal the drainage of mucin, endoscopic retrograde cholangiopancreatography (ERCP) was done. ERCP showed a focal filling defect and extraductal collection of dye at the pancreatic body. Ultrasound-guided biopsy revealed intraductal papillary mucinous adenoma with low grade dysplasia and CA 19-9 in the aspirated fluid from the pancreas was elevated to 379.58 U/mL. Partial pancreatectomy was performed and intraductal papillary mucinous carcinoma in situ was confirmed ().\nWhen he was 27 years old, he suffered from abdominal discomfort and dizziness. His conjunctiva was pale and hemoglobin was 7.3 g/dL but other biochemical studies were normal. Gastroduodenoscopy revealed multiple papillary polyps diffusely covering the greater curvature of the corpus (). Wide endoscopic polypectomy was performed under general anesthesia. Histological examination revealed hamartomatous polyps with low-grade dysplasia and focal intramucosal carcinoma (). CT scan showed remnant massive polyps in the stomach. The patient was referred to surgical department for operation but subtotal gastrectomy was performed in another hospital following the opinions of his family.