Peutz-Jeghers综合征伴宫颈腺癌及甲状腺肿瘤1例并文献复习

A Case of Peutz-Jeghers Syndrome Complicated with Cervical Adenocarcinoma and Thyroid Tumor and Literature Review

摘要: Peutz-Jeghers综合征(PJS)是由STK11/LKB1基因突变导致的罕见常染色体显性遗传病，以消化道多发息肉、皮肤黏膜色素沉着及高肿瘤易感性为核心特征，女性患者易合并生殖系统等多器官肿瘤。本文报道青岛大学附属医院诊治的1例50岁PJS合并宫颈胃型腺癌、甲状腺肿瘤及乳腺异常的女性患者病例，该患者因阴道异常排液就诊，既往有肠套叠手术及胃肠道息肉切除史，基因检测提示STK11杂合致病，最终确诊为宫颈胃型腺癌IIIC2期，予手术联合放化疗治疗。结合文献复习，探讨PJS的发病机制、肿瘤易感性特点，重点分析PJS相关宫颈胃型腺癌的临床特征、筛查难点及诊疗策略。对PJS患者需制定个体化多器官筛查随访方案，重视遗传咨询与基因检测，实现相关病变的早发现、早诊断与精准治疗，同时筛查家属潜在患者，以改善患者预后。

Abstract: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant genetic disorder caused by STK11/LKB1 gene mutations, featuring multiple gastrointestinal polyps, mucocutaneous pigmentation and high tumor susceptibility. Female patients are prone to multiple organ tumors, especially those of the reproductive system. This paper reports a case of a 50-year-old female PJS patient complicated with gastric-type endocervical adenocarcinoma, thyroid tumor and breast abnormalities, who presented with abnormal vaginal discharge and had a history of intussusception surgery and gastrointestinal polypectomy. Genetic testing indicated a heterozygous pathogenic STK11 mutation, and she was finally diagnosed with stage IIIC2 gastric-type endocervical adenocarcinoma, receiving surgery combined with radiotherapy and chemotherapy. Combined with a literature review, we explored the pathogenesis and tumor susceptibility of PJS, focusing on the clinical features, screening difficulties, diagnosis and treatment strategies of PJS-associated gastric-type endocervical adenocarcinoma. For PJS patients, individualized multi-organ screening and follow-up strategies should be established. Genetic counseling and testing should be emphasized to enable early detection, early diagnosis, and precision treatment of associated lesions. In addition, family members should be screened for potential carriers to improve overall patient prognosis.