子宫平滑肌肉瘤的分子遗传学特征与研究进展  

Molecular genetics and research progress of uterine leiomyosarcoma

作　　者：王陈颖 肖荟尹 诸志鹏 郑素雅 徐良 陈烨[1,2,5] Chenying Wang;Huiyin Xiao;Zhipeng Zhu;Suya Zheng;Liang Xu;Ye Chen(Department of Surgical Oncology,Children's Hospital Zhejiang University School of Medicine,Hangzhou 310052,China;Pediatric Cancer Research Center,National Clinical Research Center for Child Health,Hangzhou 310052,China;Institute of Biochemistry,College of Life Sciences,Zhejiang University,Hangzhou 310058,China;Chu Kochen Honors College,Zhejiang University,Hangzhou 310058,China;Cancer Center,Zhejiang University,Hangzhou 310058,China)

机构地区：[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

出　　处：《遗传》2024年第8期603-626,共24页Hereditas（Beijing)

基　　金：国家自然科学基金项目(编号:32270746,82203247,82203415);浙江省自然科学基金项目(编号:LZ23C060002,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。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.

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 

分 类 号：R737.33[医药卫生—肿瘤]