When Synchronous Mucinous Metaplasia and Neoplasia of the Female Genital Tract and Peutz-Jeghers Syndrome Meet: A Case Report and Literature Reviews

Abstract

Abstract Background: Peutz-Jeghers syndrome (PJS) is characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation on the lips, oral mucosa, nose, fingers, and toes. Synchronous Mucinous Metaplasia and Neoplasia of the Female Genital Tract (SMMN-FGT) refers to the occurrence of multifocal mucinous lesions in at least 2 sites of the female genital tract, including the cervix, uterus, fallopian tubes, and ovaries. SMMN-FGT and PJS are both rare diseases with very low incidence especially occur at the same time. Case presentation: We report a case in which a woman with a huge mass on the left ovary received a gynecological surgery and diagnosed with cervical gastric-type adenocarcinoma and mucinous lesions in endometrium, bilateral fallopian tubes, and ovary, i.e., SMMN-FGT by postoperative paraffin pathology. The female seek doctors for help because of abdominal distension and enlargement, gynecological ultrasound revealed a multi-room cystic mass in the pelvis while serum tumor markers are normal with CA 199、CA125 elevated mildly, and cervical thin-prep cytology test was negative. The female had a PJS family history and was diagnosed with PJS since the age of 8 with black spots on her skin and mucous membranes, her gene testing shows STK11 germline mutation heterozygous type. She underwent left adnexectomy and hysterectomy surgery etc. and received adjuvant chemotherapy for a total of 6 courses, there were no signs of recurrence during the 15-month follow-up period after treatment. Conclusions: Gynecologists should pay attention to vaginal discharge symptoms although the TCT result is negative. Gynecologists, gastroenterologists, dermatologists, and even urologists need to be vigilant when patient had black spots on her skin and mucous membranes. The patient's PJS symptoms can provide evidence for clinical doctors to be alert to the occurrence of malignant tumors, which can lead to early detection, diagnosis, and treatment of malignant tumors. Gynecologists, gastroenterologists, dermatologists, and even urologists need to be vigilant in clinical practice. In addition, patient education is particularly important, including genetic counseling, regular follow-up, and early screening and predictive diagnosis for their direct relatives.