Increased Risk of Cancer in the Peutz–Jeghers Syndrome

The Peutz–Jeghers syndrome is an autosomal dominant hereditary disease characterized by hamartomatous polyps of the gastrointestinal tract and by mucocutaneous melanin deposits. The frequency of cancer in this syndrome has not been studied extensively. Therefore, we investigated 31 patients with the Peutz–Jeghers syndrome who were followed from 1973 to 1985. All cases of cancer were verified by histopathological review. Cancer developed in 15 of the 31 patients (48 percent) — gastrointestinal carcinomas in 4, nongastrointestinal carcinomas in 10, and multiple myeloma In 1. In addition, adenomatous polyps of the stomach and colon occurred in three other patients. The cancers were diagnosed when the patients were relatively young, but after the Peutz–Jeghers syndrome had been diagnosed (interval between diagnoses, 25±20 years; range, 1 to 64). According to relative-risk analysis, the observed development of cancer in the patients with the syndrome was 18 times greater than expected in the general population (P<0.0001). Our results suggest that patients with the Peutz–Jeghers syndrome have an increased risk for the development of cancer at gastrointestinal and nongastrointestinal sites. (N Engl J Med 1987; 316:1511–4.), THE Peutz–Jeghers syndrome is an autosomal dominant disease characterized by hamartomatous polyps in the gastrointestinal tract and by mucocutaneous melanin pigmentation.^{1 2 3} The hamartomatous polyps were initially thought to have little potential for malignancy, and the disease was believed to have a relatively benign course.⁴ Reports in the medical literature, however, have associated the syndrome with gastrointestinal carcinoma^5,6 and malignant tumors of the breast.^{7 8 9 10 11 12} Some of these studies have underscored unusual types of associated tumors, such as the ovarian sex-cord tumor with annular tubules and adenoma malignum of the cervix.^13,14 In addition, two cases of the very rare Sertoli-cell tumor of….