[A Family with Peutz-Jeghers Syndrome Having Various Malignant Diseases].

ABSTRACT

We report a 27-year-old female who was diagnosed with adenocarcinoma of the uterine cervix associated with Peutz- Jeghers syndrome(PJS). She had undergone 5 surgeries for intestinal intussusception and had been diagnosed with PJS. She was referred to our hospital, complaining of watery vaginal discharge, and was diagnosed with adenocarcinoma of the uterine cervix. Following neoadjuvant chemotherapy, radical hysterectomy and small intestinal polypectomy by intraoperative endoscopy were performed. Among the third-degree relatives of her family, 10 had been diagnosed with PJS; of these 10, uterine cervical adenocarcinoma occurred in 3 relatives, pancreatic cancer in 2, cholangiocellular carcinoma in 1, and colon cancer in 1. Patients with PJS are at increased risk of developing malignant tumors in various organs. A recent review of the literature from Japan revealed that the cumulative cancer risk was estimated to be 83%by the age of 70 years, with especially high incidence rates of uterine cervical adenocarcinoma, colorectal cancer, and pancreas cancer. Surveillance for malignant neoplasms in patients with PJS is recommended, focusing on the sex and age of the patients.