| 特集名 | 遺伝性大腸疾患の最近の話題 | |
|---|---|---|
| 題名 | ポリポーシスの最近の話題 (3) Peutz-Jeghers症候群 | |
| 発刊年月 | 2008年 08月 | |
| 著者 | 権田 剛 | 埼玉医科大学総合医療センター消化管・一般外科 |
| 著者 | 石橋 敬一郎 | 埼玉医科大学総合医療センター消化管・一般外科 |
| 著者 | 横山 勝 | 埼玉医科大学総合医療センター消化管・一般外科 |
| 著者 | 石田 秀行 | 埼玉医科大学総合医療センター消化管・一般外科 |
| 著者 | 岩間 毅夫 | 佐々木研究所附属杏雲堂病院外科 |
| 【 要旨 】 | Peutz-Jeghers症候群 (PJS)は，皮膚・粘膜の色素沈着と消化管に多発する過誤腫性ポリープを特徴とする，常染色体優性遺伝の疾患であり，消化器，その他の臓器を含めた種々の悪性腫瘍発生の高危険群である．STK11 / LKB1遺伝子が原因遺伝子として同定され遺伝子診断も可能であるが，これ以外の原因遺伝子の存在も推測されている．ここではPJSの一般臨床的特徴を述べるとともに，治療やサーベイランスに関して，最近の報告例の集計から得られた知見について述べる． | |
| Theme | Recent Topics of Hereditary Colorectal Disease | |
|---|---|---|
| Title | Pentz-Jeghers Syndrome | |
| 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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