Lobular endocervical glandular hyperplasia diagnosed during surveillance for Peutz-Jeghers Syndrome: A case report.

Background: Lobular endocervical glandular hyperplasia (LEGH) is a benign cervical condition that has been proposed as a precursor lesion to minimal deviation adenocarcinoma (MDA), a rare but highly aggressive subtype of well-differentiated gastric-type endocervical adenocarcinoma (GAS). MDA is more frequently observed in patients with Peutz-Jeghers syndrome (PJS) and is strongly associated with mutations in the STK11 gene. While LEGH is not inherently linked to PJS, its potential progression to MDA warrants vigilance, particularly in patients with PJS due to their heightened risk of gynecologic malignancies. Here, we report a case of LEGH diagnosed during surveillance for PJS, analyzed via whole genome sequencing. LEGH is a benign cervical condition, considered a precursor lesion to minimal deviation adenocarcinoma, often observed in patients with Peutz-Jeghers syndrome (PJS) and potentially linked to mutations in the Case: A 23-year-old woman, diagnosed with PJS at age 11, was referred to a gynecologist after a cystic lesion was detected in the cervix during a follow-up computed tomography scan. Initial examinations, including imaging and colposcopy, did not indicate LEGH or a malignant tumor. Imaging alone is insufficient to exclude premalignant or malignant conditions, as abnormal cervical lesions often require biopsy for a definitive diagnosis. However, cervical cytology showed nuclear atypia was minimal, but some clusters exhibited disordered alignment, and the cytoplasm contained yellowish mucus suggestive of LEGH. Based on these findings, cytology follow-up was planned. However, the patient did not return for further follow-up. After one year and five months, the patient presented with increased mucous vaginal discharge. Cervical cytology indicated atypical glandular cells, and magnetic resonance imaging with contrast enhancement revealed an enlarged cervical lesion, suggesting minimal deviation adenocarcinoma. We performed cervical conization, and a histopathological examination helped confirm LEGH. High-throughput next-generation sequencing of the excised cervical tissue revealed a missense mutation in the serine/threonine kinase 11 ( Conclusion: We conclude that whole genome sequencing in patients with PJS and LEGH could be pivotal in predicting cervical malignancy. This case emphasizes the utility of whole genome sequencing in predicting the risk of cervical malignancy in patients with PJS and LEGH and highlighting the critical role of genetic factors in the management and surveillance of these patients. Continuous monitoring post-surgery showed no evidence of malignant transformation, supporting a conservative approach in fertility-preserving treatment scenarios.