Female genital tract tumors and gastrointestinal lesions in the Peutz-Jeghers Syndrome

Abstract

Background: Peutz-Jeghers Syndrome (PJS) is a rare genetic disorder characterized by mucocutaneous melanin deposition, and intestinal hamartomatous polyps, with an increased risk of breast, gastrointestinal, and female genital tract cancers. Case Report: Multiple genital tract neoplasms in a 52-year-old northern Thai woman with PJS are described. The patient presented with abdominal distention. A pelvic ultrasound scan showed a left adnexal mass, diagnosed as mucinous cyst. An ovarian microscopic cystadenoma was diagnosed together with a minimal deviation mucinous adenocarcinoma (MDA) of the uterine cervix and mucinous metaplasia in tubal mucosa and endometrium. Pathological findings warranted a search for evidence of PJS. Typical pigmentation at the hard palate and colonoscopic finding of hamartomatous polyps established the diagnosis of PJS. At four-year follow-up, the patient still showed no evidence of tumor recurrence. Conclusion: A case of PJS complicated by multiple and contemporaneous genital tract tumors with rare histological findings is presented. The presented case suggests MDA and mucinous metaplasia warrant a search for PJS.