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[下一代测序在急性髓系白血病精准肿瘤学方法中的重要性]

[Importance of next generation sequencing in precision oncology approach of acute myeloid leukemia].

作者信息

Andrikovics Hajnalka, Kövy Petra, Bors András, Csabán Dóra, Meggyesi Nóra, Õrfi Zoltán, Borsy Adrienn, Kozma András, Dolgos János, Harasztdombi József, Mikala Gábor, Reményi Péter, Vályi-Nagy István

机构信息

Molekuláris Genetikai Laboratórium, Dél-pesti Centrumkórház - Országos Hematológiai és Infektológiai Intézet, Budapest, Hungary.

Hematológiai és Õssejt-transzplantációs Osztály, Dél-pesti Centrumkórház - Országos Hematológiai és Infektológiai Intézet, Budapest, Hungary.

出版信息

Magy Onkol. 2019 Dec 9;63(4):282-287. Epub 2019 Oct 29.

PMID:31821383
Abstract

In contrast to solid tumours, the genetic background of acute myeloid leukemia (AML) is characterized by a relatively low number of alterations per sample (average 3-5 mutations similarly to paediatric malignancies). Although the mutational background is rather heterogeneous, the detection of genetic alterations has diagnostic, prognostic and therapeutic relevance. We investigated cytogenetic and most commonly occurring molecular genetic alterations, and their co-occurrence in 830 AML patients diagnosed and treated in our institute between 2001 and 2019. Results from the recently introduced next generation sequencing for seven AML patients are also presented. Both methods (previously performed standard PCR-based tests and NGS) achieved the same results for commonly occurring mutations, but NGS technique was capable to identify further, rarely occurring mutations which bear diagnostic and prognostic importance according to the recent European LeukemiaNet recommendations. The introduction of NGS techniques to routine laboratory diagnostic applications is a required step following international expertise.

摘要

与实体瘤不同,急性髓系白血病(AML)的基因背景特征是每个样本中的改变数量相对较少(平均3 - 5个突变,类似于儿童恶性肿瘤)。尽管突变背景相当异质性,但基因改变的检测具有诊断、预后和治疗相关性。我们调查了2001年至2019年在我们研究所诊断和治疗的830例AML患者的细胞遗传学和最常见的分子遗传学改变及其共现情况。还展示了最近对7例AML患者采用新一代测序的结果。两种方法(以前进行的基于标准PCR的检测和NGS)对于常见突变获得了相同的结果,但根据最近欧洲白血病网络的建议,NGS技术能够识别出更多具有诊断和预后重要性的罕见突变。按照国际专业意见,将NGS技术引入常规实验室诊断应用是必要的一步。

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