二代测序技术在多发性骨髓瘤分子遗传学检测中的应用

Application of Next-generation Sequencing in Detecting Molecular Genetic Alterations of Multiple Myeloma

多发性骨髓瘤(multiple myeloma,MM)是一种恶性浆细胞疾病,为获得最佳预后,对患者进行个体化治疗、微小残留病(minimal residual disease,MRD)监测以及预后分层至关重要。全文在总结MM患者分子遗传学改变特点的基础上,阐述了二代测序(next-generation sequencing,NGS)技术在指导治疗、MRD监测、预后分层中的潜在价值及现存问题,旨在充分了解NGS在MM临床应用中的优势和局限性。

Multiple myeloma(MM) is a malignant disease of plasma cells. The individualized treatment,monitor minimal residual disease(MRD) and prognostic stratification are crucial to obtain the better prognosis of MM patients. In this article the molecular genetic characteristics of MM,the application of next-generation sequencing( NGS) technique in treatment, MRD monitoring, and prognostic stratification of MM patients are reviewed,and the advantages and limitations of NGS in clinical practice are also discussed.