肉瘤是罕见且多种多样的间叶组织和骨骼肿瘤。世界卫生组织将肉瘤分类为超过一百种不同的实体，它们在分子、基因和表观遗传标记、临床表现和行为上非常多样。虽然肉瘤可能与潜在的遗传性癌症易感性有关，但大多数肉瘤是无明显原因的。肉瘤的肿瘤发生涉及到基因、表观遗传和环境因素之间的复杂相互作用，这些因素密切相关且被广泛研究。在过去几十年中，已有多项分子发现，导致新的治疗途径的开发。肉瘤研究继续努力实现针对所有肉瘤亚型的更具体和个性化的治疗方法，以改善患者预后，这需要全球范围内的合作。本章“肉瘤表观遗传的基因和环境重编程”综述了肉瘤的一般概念和流行病学，以及肉瘤中所见的基因、分子和表观遗传变化的详细描述，它们的治疗意义和正在进行的研究。本综述还提供了有关环境和职业因素可能涉及肉瘤发病机制的基于证据的数据，以及关于微生物组在肉瘤中的作用的简要讨论。版权所有 © 2023 Elsevier Inc. 保留所有权利。

Sarcomas are rare and heterogenous mesenchymal tumors occurring in soft tissue and bone. The World Health Organization Classification of sarcomas comprises more than hundred different entities which are very diverse in their molecular, genetic and epigenetic signatures as they are in their clinical presentations and behaviors. While sarcomas can be associated with an underlying hereditary cancer predisposition, most sarcomas developed sporadically without identifiable cause. Sarcoma oncogenesis involves complex interactions between genetic, epigenetic and environmental factors which are intimately related and intensively studied. Several molecular discoveries have been made over the last decades leading to the development of new therapeutic avenues. Sarcoma research continues its effort toward a more specific and personalized approach to all sarcoma sub-types to improve patient outcomes and this through world-wide collaboration. This chapter on "Genetic and Environmental Reprogramming of the Sarcoma Epigenome" provides a comprehensive review of general concepts and epidemiology of sarcoma as well as a detailed description of the genetic, molecular and epigenetic alterations seen in sarcomas, their therapeutic implications and ongoing research. This review also presents evidenced-based data on the environmental and occupational factors possibly involved in the etiology of sarcomas and a brief discussion on the role of the microbiome in sarcoma.Copyright © 2023 Elsevier Inc. All rights reserved.