Choi H S, Park Y J, Park J G
Laboratory of Cell Biology, Cancer Research Institute, Seoul National University College of Medicine, Korea.
J Korean Med Sci. 1999 Feb;14(1):2-7. doi: 10.3346/jkms.1999.14.1.2.
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. Furthermore, repeated operations may be needed in some patients, which may result in short bowel syndrome. Although early reports did not demonstrate a predisposition to cancer in patients with this syndrome, more recent studies have described an increased risk for both gastrointestinal and extra-gastrointestinal cancers. Women with the Peutz-Jeghers syndrome have the extremely high risk for breast and gynecologic cancer. Recently, Peutz-Jeghers syndrome susceptibility gene, encoding the serine threonine kinase STK11 (also called LKB1), was identified in families with Peutz-Jeghers syndrome. The identifications of germline mutations in families with Peutz-Jeghers syndrome could be a turning point in the management of Peutz-Jeghers syndrome.
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黏膜皮肤色素沉着。黑斑息肉综合征患者常因息肉并发症而以外科急症就诊，如肠套叠、肠梗阻和出血。此外，部分患者可能需要反复手术，这可能导致短肠综合征。尽管早期报告未显示该综合征患者有癌症易感性，但最近的研究表明其患胃肠道和胃肠道外癌症的风险增加。患有黑斑息肉综合征的女性患乳腺癌和妇科癌症的风险极高。最近，在黑斑息肉综合征家族中发现了编码丝氨酸苏氨酸激酶STK11（也称为LKB1）的黑斑息肉综合征易感基因。在黑斑息肉综合征家族中发现种系突变可能是该综合征治疗的一个转折点。
