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丝氨酸/苏氨酸激酶11(STK11)相关附件肿瘤:从生物学特性到治疗意义

Serine/threonine kinase 11 (STK11) associated adnexal tumors: from biology to therapeutic impact.

作者信息

Huang Guanxiang, Lin Wenyu, Jiang Tingting, Cai Yuanjun, Lin Chengbin, Sun Pengming

机构信息

Laboratory of Gynecologic Oncology, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No.18 Daoshan Road, Fuzhou, Fujian, 350001, China.

Fujian Key Laboratory of Women and Children's Critical Diseases Research, Fujian Maternity and Child Health Hospital (Fujian Women and Children's Hospital), Fuzhou, 350001, Fujian, China.

出版信息

Hum Genomics. 2025 Mar 18;19(1):28. doi: 10.1186/s40246-025-00741-w.

Abstract

Female adnexal malignancies, while relatively uncommon, exhibit high mortality rates due to often-late diagnosis. The serine/threonine kinase 11 (STK11) is a tumor suppressor gene, and its inactivation or mutation often leads to an autosomal dominant genetic disorder known as Peutz-Jeghers syndrome (PJS), which is associated with ovarian and cervical cancers. STK11-associated adnexal tumors mostly originate from the ovary, with a low incidence rate but high metastasis rates worldwide. In addition to surgery and chemotherapy, it is necessary to optimize relevant screening policy and targeted therapy. STK11-associated adnexal tumors are difficult to diagnose by histopathology. Although genetic testing involves higher costs, it can serve as a primary preventive measure for high-risk populations with STK11-associated tumors. A more intensive screening program (MISP) is needed for individuals with significant clinical symptoms and a family history of PJS. These tumors may be adequately treated with fertility-sparing surgery in young women with lower malignant potential tumors. Prophylactic adnexectomy, chemotherapy, and immunotherapy may offer potential clinical benefits but also pose significant challenges. Therefore, surgery should be undertaken with careful and comprehensive consideration of the patient's age, reproductive history, risk of malignancy, genetic mutation lineages, post-operative complications, and other conditions. Further research is essential to develop better screening, diagnostic, and treatment strategies.

摘要

女性附件恶性肿瘤虽然相对少见,但由于诊断往往较晚,死亡率很高。丝氨酸/苏氨酸激酶11(STK11)是一种肿瘤抑制基因,其失活或突变常导致一种常染色体显性遗传病,称为黑斑息肉综合征(PJS),该综合征与卵巢癌和宫颈癌有关。与STK11相关的附件肿瘤大多起源于卵巢,在全球范围内发病率低但转移率高。除手术和化疗外,有必要优化相关筛查政策和靶向治疗。与STK11相关的附件肿瘤通过组织病理学难以诊断。虽然基因检测成本较高,但它可作为患有与STK11相关肿瘤的高危人群的主要预防措施。对于有明显临床症状和PJS家族史的个体,需要更强化的筛查方案(MISP)。对于恶性潜能较低的年轻女性,保留生育功能的手术可能足以治疗这些肿瘤。预防性附件切除术、化疗和免疫治疗可能带来潜在的临床益处,但也带来重大挑战。因此,手术应在仔细、全面考虑患者年龄、生育史、恶性风险、基因突变谱系、术后并发症及其他情况后进行。开展更好的筛查、诊断和治疗策略的进一步研究至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a30/11921566/8122ae86e285/40246_2025_741_Fig1_HTML.jpg

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