Sarcomas are rare and complex malignancies that have been associated with a poor prognostic outcome. Over the last few decades, traditional treatment with surgery and/or chemotherapy has not significantly improved outcomes for most types of sarcomas. In recent years, there have been significant advances in the understanding of specific gene mutations that are important in driving the pathogenesis and progression of sarcomas. Identification of these new gene mutations, using next-generation sequencing and advanced molecular techniques, has revealed a range of potential therapeutic targets. This, in turn, may lead to the development of novel agents targeted to different sarcoma subtypes. In this review, we highlight the advances made in identifying sarcoma gene mutations, including those of p53, RB, PI3K and IDH genes, as well as novel therapeutic strategies aimed at utilizing these mutant genes. In addition, we discuss a number of preclinical studies and ongoing early clinical trials in sarcoma targeting therapies, as well as gene editing technology, which may provide a better choice for sarcoma patient management.

肉瘤是罕见且复杂的恶性肿瘤，与不良的预后有关。在过去的几十年中，采用手术和/或化学疗法进行的传统治疗并未显着改善大多数类型肉瘤的预后。近年来，对特定基因突变的理解有了重大进展，这些基因突变在驱动肉瘤的发病机理和发展中起着重要的作用。使用下一代测序和先进的分子技术对这些新基因突变的鉴定揭示了一系列潜在的治疗靶标。反过来，这可能会导致开发针对不同肉瘤亚型的新型药物。在这篇综述中，我们重点介绍了在识别肉瘤基因突变方面的进展，包括p53，RB，PI3K和IDH基因突变，以及旨在利用这些突变基因的新型治疗策略。此外，我们讨论了许多针对肉瘤靶向治疗的临床前研究和正在进行的早期临床试验，以及基因编辑技术，这些技术可能为肉瘤患者的治疗提供更好的选择。