骨肿瘤二代测序及分子检测技术临床应用专家共识

Expert consensus on clinical practice guidance for molecular testing/next-generation sequencing in bone tumors

近年来,分子诊疗技术的快速发展对骨肿瘤领域的临床诊断、疗效评估、预后判断等方面也产生了显著的影响。分子水平检测技术的进步为患者的个体化诊疗、改善预后奠定了基础。目前,以二代测序技术为代表的分子检测技术应用日益广泛,但其在骨原发肿瘤领域的应用一直未形成共识。为了完善和规范原发骨肿瘤的分子诊疗技术及临床实践应用的各个环节,进一步推动该技术在临床合理和科学地应用,中国抗癌协会骨肿瘤与骨转移癌专业委员会药物与精准治疗学组的专家们在系统总结临床及转化医学研究进展的基础上结合我国实际情况,经过多次讨论,形成了本共识。本共识旨在为原发骨肿瘤的分子诊疗提供建议及参考,并为后续工作奠定基础。

In recent years,the development of molecular diagnosis and treatment technology has raised a significant impact on the clinical practice,including diagnosis,treatment evaluation and prognosis prediction of bone tumors.The biomolecular technology has laid a foundation for individualized diagnosis and treatment,potentially improving prognosis.Biomolecular technology,such as nextgeneration sequencing technology(NGS),is increasingly accommodated in the clinical practice.In the field of primary bone tumors,there has been a lack of consensus on guidance of utilization of NGS for clinical work.In order to improve and standardize the biomolecular technique of primary bone tumors,members of Precision Medicine Working Group from Primary and Metastatic Bone Tumor Committee of China Anti-cancer Association(CACA)summarized the clinical and translational research progress,also taking actual situation of our nation into account,formed the current consensus.The current consensus aims to provide suggestions and references for utilizing the biomolecular diagnosis technique into current clinical practice of primary bone tumors,and lay the foundation for future work.