Gastric-type endocervical adenocarcinoma with Peutz-Jeghers syndrome: a case report and literature review.

Gastric-type endocervical adenocarcinoma (G-EAC) is a mucinous adenocarcinoma with gastric differentiation, and its preoperative diagnosis is challenging due to nonspecific symptoms. Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps, associated with an increased risk of G-EAC and other gynecological malignancies. We report a 44-year-old woman presenting with a 10-year cervical mass and 3-year vaginal discharge. She did not seek further medical attention because the cervical mass was asymptomatic and grew slowly. At age 35, she underwent partial jejunectomy for multiple small bowel polyps and intussusception, and postoperative pathology confirmed PJS. Her ultrasound revealed a 4.9 × 3.5 × 3.3 cm cervical mass, while cervical cytology examination was normal. G-EAC was unexpectedly diagnosed on postoperative pathology following total hysterectomy. Postoperative PET-CT imaging demonstrated pelvic lymph node metastasis. She subsequently underwent radical parametrectomy, bilateral oophorectomy, pelvic lymph node dissection, followed by chemotherapy. We also reviewed previously G-EAC cases with PJS, summarizing the pathogenesis and key points for diagnosis and treatment. We provide an in-depth analysis of the reasons for missed diagnosis of G-EAC and highlight the diagnostic challenges. The aim is to enhance gynecologists' understanding of G-EAC in patients with PJS.