Choi H S, Park Y J, Youk E G, Yoon K A, Ku J L, Kim N K, Kim S M, Kim Y J, Moon D J, Min J S, Park C J, Bae O S, Yang D H, Jun S H, Chung E S, Jung P M, Whang Y, Park J G
Department of Surgery, Cancer Research Institute, Seoul National University, College of Medicine, Korea.
Int J Colorectal Dis. 2000 Feb;15(1):35-8. doi: 10.1007/s003840050005.
Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by hamartomatous polyps in the small bowel and mucocutaneous pigmentation. Patients with Peutz-Jeghers syndrome often present as surgical emergencies with complications of the polyps, such as intussusception, bowel obstruction, and bleeding. Recently an increased risk of malignancies has also been reported. This study was initiated to determine the clinical features of Peutz-Jeghers syndrome in Korean patients, with special attention to the development of malignancies. Thirty patients with Peutz-Jeghers syndrome were investigated; their median age was 23.5 years, and symptoms appeared at a median age of 12.5 years. Family history was positive in one-half of cases, and mucocutaneous pigmentation was observed in almost all patients (93%). The jejunoileum was the most frequent site of the polyps, and there were generally 10-100 polyps. Multiple laparotomies were performed in a substantial portion of the patients, due mainly to polyp-induced bowel obstruction, and the surgical interventions were begun at a relatively young age (average 21.4 years). Four cases of small-bowel cancer and one case of breast cancer were detected in probands, at a relatively young age (mean 36 years). Cancers of the small bowel, stomach, colon, breast and cervix were diagnosed in the first relatives of the probands. Close follow-up from an early age should thus be performed in patients with Peutz-Jeghers syndrome as they are at high risk of surgical emergency and development of malignancy.
黑斑息肉综合征是一种常染色体显性遗传性疾病，其特征为小肠错构瘤性息肉和皮肤黏膜色素沉着。黑斑息肉综合征患者常因息肉并发症，如肠套叠、肠梗阻和出血，而表现为外科急症。最近也有报道称其患恶性肿瘤的风险增加。本研究旨在确定韩国患者黑斑息肉综合征的临床特征，特别关注恶性肿瘤的发生情况。对30例黑斑息肉综合征患者进行了调查；他们的中位年龄为23.5岁，症状出现的中位年龄为12.5岁。一半的病例有家族史，几乎所有患者（93%）都观察到皮肤黏膜色素沉着。空肠回肠是息肉最常见的部位，通常有10 - 100个息肉。相当一部分患者进行了多次剖腹手术，主要是由于息肉引起的肠梗阻，且手术干预在相对年轻的年龄（平均21.4岁）就开始了。在先证者中检测到4例小肠癌和1例乳腺癌，发病年龄相对年轻（平均36岁）。在先证者的一级亲属中诊断出小肠、胃、结肠、乳腺和宫颈癌。因此，由于黑斑息肉综合征患者有发生外科急症和恶性肿瘤的高风险，应从幼年开始密切随访。
