中文摘要：

骨肉瘤是一种好发于青少年肱骨干骺端、胫骨近端和股骨远端的原发性恶性骨肿瘤。虽然手术联合化疗的综合治疗将骨肉瘤患者的5年生存率从30%提高至50%~70%,但其易复发且易发生转移,骨肉瘤的致残率和死亡率依然很高。大量研究资料显示,骨肉瘤的发病机制除了与环境因素有关外,还与遗传因素密切相关。其中,基因多态性是遗传因素中的重要组成部分,参与疾病的发生与发展。目前,关于骨肉瘤易感性相关基因多态性的研究已很多,并取得一定的成就,均是致力于骨肉瘤的预防、诊断、治疗及判断预后。本文就近年来关于骨肉瘤易感性与相关基因多态性的研究进展做一综述。

英文摘要：

Osteosarcoma is a primary malignant bone tumor in adolescents.It has taken place mostly on humeral metaphysis,proximal tibia and distal femur.Although the 5-year survival rate of patients with osteosarcoma was increased from 30% to 50% ~ 70%,the morbidity and mortality of osteosarcoma is still very high in virtue of relapse and metastasis.A large number of studies have shown that the pathogenesis of osteosarcoma not only linked to the environmental factors,but also closely related to genetic factors.Gene polymorphism is an important component of genetic factors,which is involved in the occurrence and development of diseases.At present,there are many researches about the genetic polymorphisms of osteosarcoma,and some achievements have been made in its prevention,diagnosis,treatment and prognosis.This article reviews the research progress of related genetic polymorphisms in osteosarcoma susceptibility.