Gynecological tumors in patients with Peutz-Jeghers syndrome (PJS)

Abstract

Peutz-Jeghers syndrome (PJS) is an autosomal do-minant disorder characterized by the development of hamartomatous polyposis in the gastrointestinal tract and melanin-pigmented macules on the skin mucosa. The responsible gene is a tumor suppressor, STK11/LKB1, on chromosome 19p13.3. PJS compli-cates with benign and malignant tumors in various organs. In gynecology, there has been a particular focus on complications of PJS with sex cord tumor with annular tubules (SCTAT) and minimal devia-tion adenocarcinoma (MDA), which are rare dis-eases. Approximately 36% of patients with SCTAT are complicated with PJS and these patients are characterized by multifocal, bilateral, small and benign lesions that develop into tumors with muci-nous to serous ratios of 8:1. In addition, 10% of cases of MDA are complicated with PJS and muta-tion of STK11, the gene responsible for PJS, has a major effect on onset and prognosis. The disease concept of lobular endocervical glandular hyper-plasia (LEGH) has recently been proposed and LEGH is thought to be a potential premalignant le-sion of MDA, however, the relationship between PJS and LEGH remains unclear. Several case re-ports of PJS patients complicated with gynecologi-cal tumors have been published and further studies are needed to determine the underlying causes.