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下一代测序技术检测多发性骨髓瘤微小残留病:与实时定量PCR的比较

Minimal Residual Disease Detection by Next-Generation Sequencing in Multiple Myeloma: A Comparison With Real-Time Quantitative PCR.

作者信息

Yao Qiumei, Bai Yinlei, Kumar Shaji, Au Elaine, Orfao Alberto, Chim Chor Sang

机构信息

Department of Medicine, Queen Mary Hospital, The University of Hong Kong, Pokfulam, Hong Kong.

Institute for Immunology and School of Medicine, Tsinghua University, Beijing, China.

出版信息

Front Oncol. 2021 Jan 29;10:611021. doi: 10.3389/fonc.2020.611021. eCollection 2020.

DOI:10.3389/fonc.2020.611021
PMID:33585233
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7878533/
Abstract

Here we compared clonotype identification by allele-specific oligonucleotide real-time quantitative-PCR (ASO RQ-PCR) and next-generation sequencing (NGS) in 80 multiple myeloma patients. ASO RQ-PCR was applicable in 49/55 (89%) and NGS in 62/78 (80%). Clonotypes identified by both methods were identical in 33/35 (94%). Sensitivity of 10 was confirmed in 28/29 (96%) by NGS while sensitivity of RQ-PCR was 10 in 7 (24%), 5 × 10 in 15 (52%), and 10 in 7 (24%). Among 14 samples quantifiable by ASO RQ-PCR, NGS yielded comparable results in 12 (86%). Applicability of NGS can be improved if immunoglobulin heavy-chain incomplete DJ primers are included.

摘要

在此,我们比较了等位基因特异性寡核苷酸实时定量聚合酶链反应(ASO RQ-PCR)和二代测序(NGS)在80例多发性骨髓瘤患者中进行克隆型鉴定的情况。ASO RQ-PCR适用于49/55例(89%)患者,NGS适用于62/78例(80%)患者。两种方法鉴定出的克隆型在33/35例(94%)患者中是相同的。通过NGS在28/29例(96%)患者中证实了10的敏感性,而RQ-PCR的敏感性在7例(24%)患者中为10,在15例(52%)患者中为5×10,在7例(24%)患者中为10。在可通过ASO RQ-PCR进行定量的14个样本中,NGS在12例(86%)样本中得到了可比结果。如果包含免疫球蛋白重链不完全DJ引物,NGS的适用性可以得到提高。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e4e/7878533/f6458316b653/fonc-10-611021-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e4e/7878533/f6458316b653/fonc-10-611021-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e4e/7878533/f6458316b653/fonc-10-611021-g001.jpg

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Standardized next-generation sequencing of immunoglobulin and T-cell receptor gene recombinations for MRD marker identification in acute lymphoblastic leukaemia; a EuroClonality-NGS validation study.
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