文章：

将下一代测序（NGS）用于骨髓恶性肿瘤诊断引入临床常规应用所面临的挑战

Challenges in the introduction of next-generation sequencing (NGS) for diagnostics of myeloid malignancies into clinical routine use

原文发布日期：2018-11-12

DOI: 10.1038/s41408-018-0148-6

类型: Review Article

开放获取: 是

英文摘要：

Given the vast phenotypic and genetic heterogeneity of acute and chronic myeloid malignancies, hematologists have eagerly awaited the introduction of next-generation sequencing (NGS) into the routine diagnostic armamentarium to enable a more differentiated disease classification, risk stratification, and improved therapeutic decisions. At present, an increasing number of hematologic laboratories are in the process of integrating NGS procedures into the diagnostic algorithms of patients with acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and myeloproliferative neoplasms (MPNs). Inevitably accompanying such developments, physicians and molecular biologists are facing unexpected challenges regarding the interpretation and implementation of molecular genetic results derived from NGS in myeloid malignancies. This article summarizes typical challenges that may arise in the context of NGS-based analyses at diagnosis and during follow-up of myeloid malignancies.

摘要翻译： 

鉴于急慢性髓系肿瘤巨大的表型和遗传异质性，血液学家一直期待将二代测序技术引入常规诊断技术手段，以实现更精细化的疾病分类、风险分层并优化治疗决策。目前，越来越多血液实验室正将二代测序流程整合到急性髓系白血病、骨髓增生异常综合征和骨髓增殖性肿瘤患者的诊断算法中。伴随这些发展，临床医生和分子生物学家在解读髓系肿瘤二代测序分子遗传学结果及将其应用于临床实践时，正面临前所未有的挑战。本文总结了在髓系肿瘤初诊及随访过程中基于二代测序分析可能出现的典型挑战。

原文链接：

Challenges in the introduction of next-generation sequencing (NGS) for diagnostics of myeloid malignancies into clinical routine use