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

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.