软组织肉瘤的分子生物学：当前认知与未来展望
The Molecular Biology of Soft Tissue Sarcomas: Current Knowledge and Future Perspectives.
作者信息
Vibert Julien, Watson Sarah
机构信息
INSERM U830, Équipe Labellisée Ligue Nationale Contre le Cancer, Diversity and Plasticity of Childhood Tumors Lab, Institut Curie Research Center, PSL Research University, 75005 Paris, France.
Department of Medical Oncology, Institut Curie Hospital, 75005 Paris, France.
出版信息
Cancers (Basel). 2022 May 22;14(10):2548. doi: 10.3390/cancers14102548.
Abstract
Soft tissue sarcomas are malignant tumors of mesenchymal origin, encompassing a large spectrum of entities that were historically classified according to their histological characteristics. Over the last decades, molecular biology has allowed a better characterization of these tumors, leading to the incorporation of multiple molecular features in the latest classification of sarcomas as well as to molecularly-guided therapeutic strategies. This review discusses the main uses of molecular biology in current practice for the diagnosis and treatment of soft tissue sarcomas, in addition to perspectives for this rapidly evolving field of research.
摘要
软组织肉瘤是间叶组织来源的恶性肿瘤，涵盖了一大类实体肿瘤，这些肿瘤在历史上是根据其组织学特征进行分类的。在过去几十年中，分子生物学使我们能够更好地对这些肿瘤进行特征描述，从而在最新的肉瘤分类中纳入了多种分子特征，并催生了分子导向的治疗策略。本综述讨论了分子生物学在软组织肉瘤当前诊断和治疗实践中的主要应用，以及这个快速发展的研究领域的前景。
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J Clin Oncol. 2022 Dec 1;40(34):3918-3928. doi: 10.1200/JCO.22.00294. Epub 2022 Aug 10.
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3
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