| Theme | Lynch Syndrome and Hereditary Polyposis Syndromes | |
|---|---|---|
| Title | Peutz—Jeghers Syndrome | |
| Publish Date | 2019/06 | |
| Author | Hirotsugu Sakamoto | Department of Medicine, Division of Gastroenterology, Jichi Medical University |
| Author | Yuichi Sagara | Department of Medicine, Division of Gastroenterology, Jichi Medical University |
| Author | Tomonori Yano | Department of Medicine, Division of Gastroenterology, Jichi Medical University |
| Author | Hironori Yamamoto | Department of Medicine, Division of Gastroenterology, Jichi Medical University |
| [ Summary ] | Peutz‒Jeghers syndrome is an autosomal dominant inherited disorder characterized by hamartomatous polyps occurring throughout the gastrointestinal tract excluding the esophagus. Patients typically present with hyperpigmentation of the skin and mucous membranes, primarily affecting the lips/oral mucosa and the fingertips. The causative gene is the LKB1/STK11 tumor suppressor gene. Polyps observed in patients with Peutz‒Jeghers syndrome are characterized by mucosal epithelial hyperplasia and dendritic proliferation of the smooth muscle fiber bundles in the muscularis mucosa. The risk of intussusception secondary to small intestinal polyps is high, and this condition often necessitates laparotomy. In recent years, periodic balloon‒assisted endoscopy is useful to treat polyps nonsurgically. Patients are at a high risk of developing malignant tumors such as gastrointestinal, lung, breast, ovarian, and uterine cancers (minimal deviation adenocarcinoma), as well as large‒cell calcifying Sertoli cell tumors, among other such lesions. Therefore, regular surveillance is important. | |