妇科癌症中的Peutz-Jeghers综合征：文献计量学趋势、临床见解和未来方向

IF 1.3 Q3 OBSTETRICS & GYNECOLOGY

Gynecologic Oncology Reports Pub Date : 2025-09-04 DOI:10.1016/j.gore.2025.101941

Tianhui Niu, Jinghui Jia, Zhang Lei, Hongfang Wang, Guoqing Cai

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引用次数: 0

摘要

peutz - jeghers综合征（PJS）是一种常染色体显性遗传病，由STK11肿瘤抑制基因的种系突变引起。它的特点是皮肤粘膜色素沉着，胃肠道息肉病，各种恶性肿瘤的风险显著升高。虽然PJS与胃肠道癌症之间的关系已经确立，但其与妇科恶性肿瘤，特别是胃型宫颈内膜腺癌（G-EAC）的关系仍然知之甚少。PJS的罕见性和临床异质性阻碍了循证指南的发展，特别是对妇科肿瘤。方法对2010年至2024年96篇英文出版物进行了全面的文献计量分析，以绘制全球PJS相关妇科癌症的研究趋势，确定关键主题并追踪该领域知识的演变。通过对诊断为G-EAC的PJS患者的回顾性病例系列分析，结合临床、影像学和病理资料来描述其疾病特征。结果文献计量学分析显示，STK11分子发病机制的研究越来越多，PJS的监测策略也越来越完善。我们的10例PJS合并G-EAC的病例系列强调了这种恶性肿瘤的早发性和侵袭性——所有病例都是hpv阴性。临床表现常包括水样阴道分泌物和盆腔疼痛，影像学显示宫颈肿块和盆腔积液。病理检查证实6例患者为G-EAC，其余患者为非典型小叶颈内腺增生（aLEGH），强调需要提高对PJS患者的警惕。结论迫切需要针对pjs相关妇科肿瘤开展个体化、多学科筛查和治疗策略。提高对pjs相关G-EAC的认识对于早期发现至关重要。将遗传咨询、先进成像和分子诊断整合到PJS患者的常规护理中，将有助于优化这一高危人群的预后

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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

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来源期刊

Gynecologic Oncology Reports OBSTETRICS & GYNECOLOGY-

CiteScore

2.00

自引率

0.00%

发文量

183

审稿时长

41 days

期刊介绍： Gynecologic Oncology Reports is an online-only, open access journal devoted to the rapid publication of narrative review articles, survey articles, case reports, case series, letters to the editor regarding previously published manuscripts and other short communications in the field of gynecologic oncology. The journal will consider papers that concern tumors of the female reproductive tract, with originality, quality, and clarity the chief criteria of acceptance.