肉瘤亚型分类目前主要基于组织病理形态学。分子分析已成为诊断和肉瘤治疗的高效补充。肉瘤基因组知识不断增加，鉴定了可以支持组织病理诊断或提示鉴别诊断的遗传事件，以及新的治疗靶点。在本综述中，我们介绍了目前已经或可能很快在临床上使用的诊断、治疗和预后分子标志物。对于肉瘤诊断，有一些特定的融合基因对于诊断实体具有很高的支持性或病理学特异性，例如在滑膜肉瘤中的SYT::SSX。复杂的核型也可以提供诊断信息，例如当复杂核型与MDM2/CDK4扩增同时检测出现时，支持脱分化性而非低级中央骨肉瘤或良性分化脂肪肉瘤。对于分子治疗预测的肉瘤标志物，胃肠间质瘤和局部侵袭性良性间质肿瘤已有可用。在临床实践中，肉瘤的分子预后标志物很少。对于孤立纤维瘤，孤立纤维瘤中的NAB2::STAT6融合类型与预后有关，而胃肠间质瘤中的KIT/PDGFRA致病变异可提供预后信息。随着测序技术的迅速发展，了解这些方法的优点和局限以及它们在肉瘤诊断中的背景变得越来越重要。合理地相信，大多数肉瘤治疗中心将很快增加大规模测序的使用。我们得出结论，在解释遗传发现时考虑到背景环境的重要性，解释基因组学发现需要考虑肿瘤组织形态学。本文受版权保护。版权所有。

Sarcoma subtype classification is currently mainly based upon histopathological morphology. Molecular analyses have emerged as an efficient addition to the diagnostic workup and sarcoma care. Knowledge about the sarcoma genome increases, and genetic events that can either support a histopathological diagnosis or suggest a differential diagnosis are identified, as well as novel therapeutic targets. In this review, we present diagnostic, therapeutic, and prognostic molecular markers that are, or might soon be, used clinically. For sarcoma diagnostics, there are specific fusions highly supportive or pathognomonic for a diagnostic entity-for instance, SYT::SSX in synovial sarcoma. Complex karyotypes also give diagnostic information-for example, supporting dedifferentiation rather than low-grade central osteosarcoma or well differentiated liposarcoma when detected in combination with MDM2/CDK4 amplification. Molecular treatment predictive sarcoma markers are available for gastrointestinal stromal tumor and locally aggressive benign mesenchymal tumors. The molecular prognostic markers for sarcomas in clinical practice are few. For solitary fibrous tumor, the type of NAB2::STAT6 fusion in solitary fibrous tumor is associated with the outcome, and the KIT/PDGFRA pathogenic variant in gastrointestinal stromal tumors can give prognostic information. With the exploding availability of sequencing technologies, it becomes increasingly important to understand the strengths and limitations of those methods and their context in sarcoma diagnostics. It is reasonable to believe that most sarcoma treatment centers will increase the use of massive-parallel sequencing soon. We conclude that the context in which the genetic findings are interpreted is of importance, and the interpretation of genomic findings requires considering tumor histomorphology. This article is protected by copyright. All rights reserved.This article is protected by copyright. All rights reserved.