骨与软组织肿瘤二代测序中国专家共识(2021年版)

Chinese expert consensus on the application of next-generation sequencing for bone and soft tissue tumors(2021 version)

骨与软组织肿瘤临床罕见,亚型众多,且肉瘤性病变恶性程度高、预后差,给临床诊治带来巨大挑战。近年来,随着分子检测技术的发展,二代基因测序(next-generation sequencing,NGS)已广泛应用于肿瘤的分子诊断、靶向基因筛选以及表观遗传学分析等领域,使得骨与软组织肿瘤的诊治获得改善。目前,NGS技术在骨与软组织肿瘤中的应用尚存疑问。基于相关循证医学证据和专家共识,中国抗癌协会肉瘤专业委员会从NGS检测、临床应用及实验室质控角度制定了《骨与软组织肿瘤二代测序中国专家共识(2021年版)》,旨在规范NGS检测在骨与软组织肿瘤领域内的应用,更好地服务于临床诊治,使患者受益。

Bone and soft tissue tumors are a group of clinically rare malignancies with abundant subtypes.These tumors,particularly sarcomatous lesions,are challenging to diagnose and treatment because of their aggressiveness and poor prognosis.In recent years,next-generation sequencing(NGS)has been widely used for molecular diagnosis,targeted gene screening,and epigenetic analysis of tumors with the development of molecular detection technology,which improves the diagnosis and treatment of bone and soft tissue tumors to some extent.Currently,there are still many doubts about the application of NGS for bone and soft tissue tumors.Based on available medical evidence and expert opinions,the sarcoma committee of the China Anti-Cancer Association Committee of Sarcoma issued a consensus regarding the application of NGS for bone and soft tissues with respect to detection using NGS,clinical application,and laboratory quality control.The consensus aimed to standardize the utility of NGS in detecting bone and soft tissue tumors and facilitate clinical diagnosis and treatment of these tumors for the benefit of patients.