遗传 ›› 2024, Vol. 46 ›› Issue (8): 603-626.doi: 10.16288/j.yczz.24-132

• 综述 • 上一篇    下一篇

子宫平滑肌肉瘤的分子遗传学特征与研究进展

王陈颖1,2,3(), 肖荟尹3,4(), 诸志鹏3, 郑素雅1,2, 徐良3,5(), 陈烨1,2,5()   

  1. 1.浙江大学医学院附属儿童医院肿瘤外科,杭州 310052
    2.国家儿童健康与疾病临床医学研究中心儿童癌症研究中心,杭州 310052
    3.浙江大学生命科学学院生物化学研究所,杭州310058
    4.浙江大学竺可桢学院,杭州 310058
    5.浙江大学癌症研究院,杭州 310058
  • 收稿日期:2024-05-08 修回日期:2024-07-23 出版日期:2024-08-20 发布日期:2024-07-25
  • 通讯作者: 徐良,博士,研究员,研究方向:肿瘤遗传学和表观遗传。E-mail: xuliang.phd@zju.edu.cn;
    陈烨,博士,研究员,研究方向:肿瘤遗传学。E-mail: chenyephd@zju.edu.cn
  • 作者简介:王陈颖,硕士,研究助理,研究方向:肿瘤遗传学。E-mail: wangcary@zju.edu.cn;
    肖荟尹,本科生,专业方向:生命科学。E-mail: 3210104172@zju.edu.cn
    第一联系人:

    王陈颖和肖荟尹并列第一作者。

  • 基金资助:
    国家自然科学基金项目(32270746);国家自然科学基金项目(82203247);国家自然科学基金项目(82203415);浙江省自然科学基金项目(LZ23C060002);浙江省自然科学基金项目(LZ24H160004)

Molecular genetics and research progress of uterine leiomyosarcoma

Chenying Wang1,2,3(), Huiyin Xiao3,4(), Zhipeng Zhu3, Suya Zheng1,2, Liang Xu3,5(), Ye Chen1,2,5()   

  1. 1. Department of Surgical Oncology, Children's Hospital Zhejiang University School of Medicine, Hangzhou 310052, China
    2. Pediatric Cancer Research Center, National Clinical Research Center for Child Health, Hangzhou 310052, China
    3. Institute of Biochemistry, College of Life Sciences, Zhejiang University, Hangzhou 310058, China
    4. Chu Kochen Honors College, Zhejiang University, Hangzhou 310058, China
    5. Cancer Center, Zhejiang University, Hangzhou 310058, China
  • Received:2024-05-08 Revised:2024-07-23 Published:2024-08-20 Online:2024-07-25
  • Supported by:
    National Natural Science Foundation of China(32270746);National Natural Science Foundation of China(82203247);National Natural Science Foundation of China(82203415);Zhejiang Natural Science Foundation(LZ23C060002);Zhejiang Natural Science Foundation(LZ24H160004)

摘要:

子宫平滑肌肉瘤(uterine leiomyosarcoma,uLMS)是一种发生在女性生殖系统子宫肌层的恶性软组织肿瘤,漏诊误诊率高、侵袭性强、预后差。uLMS的发生机制尚未明确,疾病生物学研究相对滞后,实验模型和治疗手段也较为有限。本文重点关注了uLMS的病理分子生物学,系统梳理了uLMS的分子遗传学特征、表观遗传学变异、实验模型以及临床研究进展,同时还探讨了uLMS在肿瘤演进、肿瘤微环境、肿瘤治疗等生物学研究领域的发展方向和潜在需求,以期更好地理解uLMS的病理生物学机制并为开发潜在诊疗策略提供参考。

关键词: 子宫平滑肌肉瘤, 遗传变异, 分子病理, 肿瘤治疗, 疾病模型

Abstract:

Uterine leiomyosarcoma (uLMS) is a type of malignant soft-tissue tumor, which is developed from myometrium in the female reproductive system. This disease is difficult to be distinguished from benign uterine leiomyoma in the early stages, but it progresses aggressively and relentlessly. Hence, uLMS has a dismal prognosis and high rates of both misdiagnosis and missed diagnosis. Unfortunately, current studies of uLMS pathogenesis and disease biology are inadequate. uLMS disease models are also very limited, hindering the development of effective therapeutics. In this review, we focus on the pathological molecular biology of uLMS, and systematically review the molecular genetic features, epigenetic variants, experimental models, and clinical research progress of uLMS. We further discuss the development direction and potential needs of uLMS in the fields of tumor evolution, tumor microenvironment, and tumor therapy, with the aim of providing a better understanding of the pathobiological mechanism of uLMS and providing a reference for the development of potential diagnostic and therapeutic strategies.

Key words: uterine leiomyosarcoma, genetic dysregulation, molecular pathology, cancer therapy, disease models