与丝氨酸/苏氨酸激酶 11 (STK11) 相关的附件肿瘤:从生物学到治疗影响。

IF 3.8 3区 医学 Q2 GENETICS & HEREDITY
Guanxiang Huang, Wenyu Lin, Tingting Jiang, Yuanjun Cai, Chengbin Lin, Pengming Sun
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引用次数: 0

摘要

女性附件恶性肿瘤,虽然相对不常见,但由于诊断往往较晚,死亡率高。丝氨酸/苏氨酸激酶11 (STK11)是一种肿瘤抑制基因,其失活或突变经常导致常染色体显性遗传疾病,称为Peutz-Jeghers综合征(PJS),与卵巢癌和宫颈癌有关。stk11相关的附件肿瘤多起源于卵巢,在世界范围内发病率低但转移率高。除了手术和化疗外,还需要优化相关的筛查政策和靶向治疗。stk11相关的附件肿瘤很难通过组织病理学诊断。尽管基因检测成本较高,但它可以作为stk11相关肿瘤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,需要更密集的筛查计划(MISP)。对于有较低恶性肿瘤可能性的年轻女性,保留生育能力的手术可以充分治疗这些肿瘤。预防性附件切除、化疗和免疫治疗可能提供潜在的临床益处,但也提出了重大挑战。因此,在进行手术时应仔细综合考虑患者的年龄、生育史、恶性肿瘤风险、基因突变谱系、术后并发症和其他情况。进一步的研究对于制定更好的筛查、诊断和治疗策略至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Serine/threonine kinase 11 (STK11) associated adnexal tumors: from biology to therapeutic impact.

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.

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来源期刊
Human Genomics
Human Genomics GENETICS & HEREDITY-
CiteScore
6.00
自引率
2.20%
发文量
55
审稿时长
11 weeks
期刊介绍: Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.
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