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[淋巴增殖性疾病的常规高通量靶向测序:临床应用与挑战]

[Routine high-throughput targeted sequencing of lymphoproliferative diseases : Clinical utility and challenges].

作者信息

Menter T, Dirnhofer S, Tzankov A

机构信息

Pathologie, Institut für Medizinische Genetik und Pathologie, Universitätsspital Basel, Universität Basel, Schönbeinstrasse 40, 4031, Basel, Schweiz.

出版信息

Pathologe. 2020 Dec;41(Suppl 2):143-148. doi: 10.1007/s00292-020-00863-z.

Abstract

In contrast to other tumour entities such as lung carcinoma, melanoma or gynaecological and gastrointestinal tumours, the routine application of mutation analyses using high-throughput sequencing via next-generation sequencing (NGS) has not yet been widely established in haematopathology, especially not in lymphomas.Here we describe our experience with the use and routine implementation of a lymphoma NGS panel primarily developed for research purposes.In addition to a discussion of the steps necessary for transferring such a panel into the routine framework of an accredited institute, we show by the comprehensive workup of 80 investigations and the presentation of several case studies how the panel was able to guide us to the correct diagnosis and how it also provided clinicians with indications for possible tailored therapy options.Even if NGS does not (yet) have to be routinely applied in lymphoma diagnostics for every case, a respectively dedicated NGS panel offers the advantage of having an additional option in the case of difficult differential diagnostic considerations or uncertainties as well as at the request of the treating oncologist to identify potential targets for tailored treatment of the patients.

摘要

与肺癌、黑色素瘤或妇科及胃肠道肿瘤等其他肿瘤实体不同,通过下一代测序(NGS)进行高通量测序的突变分析在血液病理学中尚未得到广泛应用,尤其是在淋巴瘤中。在此,我们描述了我们使用主要为研究目的而开发的淋巴瘤NGS检测板并将其常规应用的经验。除了讨论将这样一个检测板纳入认可机构的常规框架所需的步骤外,我们通过对80例检测的全面分析以及几个病例研究的展示,说明了该检测板如何能够指导我们做出正确诊断,以及它如何还为临床医生提供了可能的个体化治疗方案的指示。即使NGS(目前)不必在淋巴瘤诊断中对每个病例都进行常规应用,但一个专门的NGS检测板具有这样的优势,即在鉴别诊断困难或存在不确定性时,以及应治疗肿瘤学家的要求为患者确定潜在的个体化治疗靶点时,提供了一种额外的选择。

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