分子病理学：髓系肿瘤的预后和诊断基因组标志物

Molecular Pathology: Prognostic and Diagnostic Genomic Markers for Myeloid Neoplasms.

作者信息

Kuo Frank C

机构信息

Center for Advanced Molecular Diagnostics, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.

出版信息

Surg Pathol Clin. 2016 Sep;9(3):475-88. doi: 10.1016/j.path.2016.04.010.

DOI:10.1016/j.path.2016.04.010

PMID:27523973

Abstract

Application of next-generation sequencing (NGS) on myeloid neoplasms has expanded our knowledge of genomic alterations in this group of diseases. Genomic alterations in myeloid neoplasms are complex, heterogeneous, and not specific to a disease entity. NGS-based panel testing of myeloid neoplasms can complement existing diagnostic modalities and is gaining acceptance in the clinics and diagnostic laboratories. Prospective, randomized trials to evaluate the prognostic significance of genomic markers in myeloid neoplasms are under way in academic medical centers.

摘要

下一代测序（NGS）在髓系肿瘤中的应用扩展了我们对这类疾病基因组改变的认识。髓系肿瘤中的基因组改变复杂、异质性强，且并非特定疾病实体所特有。基于NGS的髓系肿瘤基因检测 panel 可补充现有的诊断方法，并且在临床和诊断实验室中越来越被接受。学术医疗中心正在进行前瞻性、随机试验，以评估基因组标志物在髓系肿瘤中的预后意义。