Gastric-type endocervical adenocarcinoma in Peutz-Jeghers syndrome: a case and literature review

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Frontiers in Medicine Published May 29, 2026 Medically reviewed May 29, 2026 DOI ↗ By Dr. Julia Lee, PhD · Oncology, Genomics & Drug Development

Key Takeaway

Consider gastric-type endocervical adenocarcinoma in Peutz-Jeghers syndrome patients with cervical abnormalities.

This article is a case report combined with a literature review focusing on gastric-type endocervical adenocarcinoma (G-EAC) in patients with Peutz-Jeghers syndrome (PJS). The authors present a case of a 44-year-old woman with PJS who developed G-EAC and review previously reported G-EAC cases associated with PJS. The review aims to enhance gynecologists' understanding of this rare malignancy in the context of PJS.

Key findings from the review are qualitative, as no pooled effect sizes are reported. The authors highlight the clinical and pathological features of G-EAC in PJS patients, emphasizing the need for awareness among clinicians. The rarity of this condition limits the ability to draw definitive conclusions about optimal management or prognosis.

Limitations of this review include the small number of cases available for analysis and the inherent biases of case reports and narrative literature reviews. The authors do not report specific gaps or limitations beyond the scarcity of data. No safety data or adverse events are reported.

Practice relevance: This review serves to remind gynecologists to consider G-EAC in patients with PJS presenting with cervical abnormalities. However, given the limited evidence, clinical decisions should be individualized and based on multidisciplinary input.

Study Details

Study typeSystematic review

EvidenceLevel 1

PublishedMay 2026

View Original Abstract ↓

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.