Peutz-Jeghers syndrome in gynecological cancers: bibliometric trends, clinical insights, and future directions.

Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder caused by germline mutations in the STK11 tumor suppressor gene. It is characterized by mucocutaneous pigmentation, gastrointestinal polyposis, and a significantly elevated risk of various malignancies. While the association between PJS and gastrointestinal cancers is well established, its relationship with gynecological malignancies, particularly gastric-type endocervical adenocarcinoma (G-EAC), remains poorly understood. The rarity and clinical heterogeneity of PJS have hindered the development of evidence-based guidelines, especially for gynecological tumors. Methods: We conducted a comprehensive bibliometric analysis of 96 English-language publications from 2010 to 2024 to map global research trends on PJS-related gynecological cancers, identifying key topics and tracing the evolution of knowledge in this field. This was complemented by a retrospective case series analysis of PJS patients diagnosed with G-EAC, integrating clinical, imaging, and pathological data to characterize their disease features. Results: The bibliometric analysis revealed a growing research focus on STK11 molecular pathogenesis and improved surveillance strategies for PJS. Our case series of 10 PJS patients with G-EAC underscores the early onset and aggressive nature of this malignancy-all cases were HPV-negative. Clinical presentation often included watery vaginal discharge and pelvic pain, with imaging showing cervical masses and pelvic effusions. Pathological review confirmed G-EAC in six patients and atypical lobular endocervical glandular hyperplasia (aLEGH) in others, highlighting the need for heightened vigilance in monitoring PJS patients. Conclusion: These findings emphasize the urgent need for individualized, multidisciplinary screening and management strategies for PJS-associated gynecological cancers. Improved awareness of PJS-related G-EAC is crucial for early detection. Integration of genetic counseling, advanced imaging, and molecular diagnostics into routine care for PJS patients will help optimize outcomes in this high-risk population.