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骨肉瘤是儿童期和青少年期最常见的原发骨恶性肿瘤,每年的发病率约为3/100万[1],男女发病率约为1.5∶l。30年前,骨肉瘤仅限于手术治疗,截肢术占了大多数,大部分患者死于确诊后1年以内[2]。近年来,新辅助化疗的出现使患者的5年生存率大为提高[3],保肢术逐渐取代截肢术,但骨肉瘤仍是一种病死率及致残率极高的肿瘤。骨肉瘤的远期临床治疗效果处于“瓶颈”状态,其复发率及转移率仍较高。近20年,尽管诸多研究机构进行了大量的研究,但骨肉瘤生存率依然停滞不前[4]。近年来骨肉瘤相关信号转导通路的研究越来越受到重视,分子遗传学及细胞遗传学技术的发展为探求骨肉瘤的发病机制提供了新的研究方向。本文对mTOR信号途径与骨肉瘤的相关问题进行综述。
Osteosarcoma is the most common primary bone malignancy in childhood and adolescence. The annual incidence rate is approximately 3/100 million [1], and the incidence rate for males and females is approximately 1.5:1. Thirty years ago, osteosarcoma was limited to surgery, and amputation accounted for the majority of cases. Most patients died within 1 year after diagnosis [2]. In recent years, the emergence of neoadjuvant chemotherapy has greatly improved the 5-year survival rate of patients [3]. Limb salvage surgery has gradually replaced amputation, but osteosarcoma is still a tumor with a high mortality and morbidity. The long-term clinical therapeutic effect of osteosarcoma is in a “bottleneck” state, and its recurrence rate and metastasis rate are still high. In the past 20 years, although many research institutions have conducted a large number of studies, the survival rate of osteosarcoma remains stagnant [4]. In recent years, more and more attention has been paid to the research of signal transduction pathways related to osteosarcoma. The development of molecular genetics and cytogenetics technology has provided new research directions for exploring the pathogenesis of osteosarcoma. This article reviews the related issues of mTOR signaling pathway and osteosarcoma.