| Theme | Recent Topics of Hereditary Colorectal Disease | |
|---|---|---|
| Title | Pentz-Jeghers Syndrome | |
| Publish Date | 2008/08 | |
| Author | Tsuyoshi Gonda | Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University |
| Author | Keiichiro Ishibashi | Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University |
| Author | Masaru Yokoyama | Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University |
| Author | Hideyuki Ishida | Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University |
| Author | Takeo Iwama | Department of Surgery, Kyoundo Hospital, Sasaki Foundation |
| [ Summary ] | Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease, characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation. In addition, patients with PJS have an increased risk of malignant disease in the gastrointestinal tract as well as in non-gastrointestinal sites. The STK11 / LKB1 gene at chromosome l9p 13.3 has been determined to be a causative gene for PJS. 265 cases of PJS were reported in 244 Japanese publications from 1991 to 2006. In 265 reported cases, 38 gastrointestinal carcinomas (44 %) and 49 non-gastrointestinal carcinomas (56 %) were found. Gastroenterological carcinomas included 21 colorectal carcinomas, 11 gastric carcinomas, five duodenal carcinomas, nine small intestinal carcinomas and four pancreatic carcinomas. Non-gastrointestinal carcinomas included 29 uterine cervical carcinomas, 14 ovarian carcinomas and four lung carcinomas. Clinically, removing polyps from the gastrointestinal tract is important because these polyps can cause bleeding or intussusception and may also develop into cancer. Careful follow up examinations are mandatory in order to avoid overlooking onset associated malignant neoplasms. Compared with a previous report in 1990, this review demonstrated increasing numbers of case reports of uterine cervical carcinoma. Surveillance for gastroenterological malignancies as well as uterine cervical carcinoma isimportant in the clinical management of patients with PJS. |
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