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Evaluation of MYD88 p.L265P detection by digital droplet polymerase chain reaction in cerebrospinal fluid for integrated diagnosis of primary large B-cell lymphoma of the central nervous system.

作者信息

Harlay Vincent, Gallardo Catherine, Beaufils Nathalie, Astier Alexandre, Testud Benoit, Amri Amira, Fritz Shirley, Abbou Norman, Robert Philippe, Garcia Jeremy, Roll Patrice, Ouafik L'houcine, Schenone Laurence, Petrirena Gregorio, Bertucci Alexandre, Bequet Céline, Chinot Olivier, Tabouret Emeline, Nanni Isabelle, Appay Romain, Kaspi Elise, Frankel Diane

机构信息

Neuro-Oncology Department, Aix-Marseille University, APHM, University Hospital Timone, Marseille, France.

Anatomocytopathology Department, APHM, M2GM, University Hospital Timone, Marseille, France.

出版信息

Br J Haematol. 2025 May 25;207(1):289-93. doi: 10.1111/bjh.20167.

DOI:10.1111/bjh.20167
PMID:40415280
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12234266/
Abstract
摘要

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1
Evaluation of MYD88 p.L265P detection by digital droplet polymerase chain reaction in cerebrospinal fluid for integrated diagnosis of primary large B-cell lymphoma of the central nervous system.采用数字液滴聚合酶链反应检测脑脊液中MYD88 p.L265P用于中枢神经系统原发性大B细胞淋巴瘤综合诊断的评估
Br J Haematol. 2025 May 25;207(1):289-93. doi: 10.1111/bjh.20167.
2
Effectiveness of digital PCR for MYD88 detection in vitreous fluid for primary central nervous system lymphoma diagnosis.数字PCR检测玻璃体中MYD88用于原发性中枢神经系统淋巴瘤诊断的有效性
Exp Ther Med. 2020 Jul;20(1):301-308. doi: 10.3892/etm.2020.8695. Epub 2020 Apr 29.
3
Detection of the p.L265P Mutation in the CSF of a Patient With Secondary Central Nervous System Lymphoma.继发性中枢神经系统淋巴瘤患者脑脊液中p.L265P突变的检测
Front Oncol. 2018 Sep 20;8:382. doi: 10.3389/fonc.2018.00382. eCollection 2018.
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Detection of circulating tumor DNA in plasma of patients with primary CNS lymphoma by digital droplet PCR.采用数字液滴 PCR 技术检测原发性中枢神经系统淋巴瘤患者血浆中的循环肿瘤 DNA。
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The use of droplet digital PCR in liquid biopsies: A highly sensitive technique for MYD88 p.(L265P) detection in cerebrospinal fluid.液滴数字PCR在液体活检中的应用：一种用于检测脑脊液中MYD88 p.(L265P)的高灵敏度技术。
Hematol Oncol. 2018 Apr;36(2):429-435. doi: 10.1002/hon.2489. Epub 2017 Dec 6.
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L265P Variant Detection with Droplet Digital PCR in Waldenström Macroglobulinemia: Clinical Implications as a Tumor Burden and Prognostic Marker.采用液滴数字PCR检测华氏巨球蛋白血症中的L265P变异：作为肿瘤负荷和预后标志物的临床意义
Ann Lab Med. 2025 Jun 27. doi: 10.3343/alm.2024.0644.
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Impact of MYD88 and/or CD79B mutations on central nervous system relapse in patients with diffuse large B-cell lymphoma.MYD88和/或CD79B突变对弥漫性大B细胞淋巴瘤患者中枢神经系统复发的影响。
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Clinical Relevance of the High Prevalence of MYD88 L265P Mutated Vitreoretinal Lymphoma Identified by Droplet Digital Polymerase Chain Reaction.液滴数字聚合酶链反应鉴定 MYD88 L265P 突变性眼内视网膜淋巴瘤的高患病率的临床意义。
Ocul Immunol Inflamm. 2021 Apr 3;29(3):448-455. doi: 10.1080/09273948.2019.1657903. Epub 2019 Oct 11.
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Rapid detection of the MYD88 L265P mutation for pre- and intra-operative diagnosis of primary central nervous system lymphoma.快速检测 MYD88 L265P 突变，用于原发性中枢神经系统淋巴瘤的术前和术中诊断。
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Highly sensitive mutation detection by droplet digital polymerase chain reaction in Waldenström macroglobulinemia.采用液滴数字聚合酶链反应在巨球蛋白血症中进行高灵敏度突变检测。
Haematologica. 2018 Jun;103(6):1029-1037. doi: 10.3324/haematol.2017.186528. Epub 2018 Mar 22.

本文引用的文献

1
Primary central nervous system lymphomas: EHA-ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up.原发性中枢神经系统淋巴瘤：欧洲血液学协会-欧洲肿瘤内科学会诊断、治疗及随访临床实践指南
Ann Oncol. 2024 May 14. doi: 10.1016/j.annonc.2023.11.010.
2
Liquid biopsy for improving diagnosis and monitoring of CNS lymphomas: A RANO review.液体活检提高中枢神经系统淋巴瘤诊断和监测的价值：一项 RANO 综述。
Neuro Oncol. 2024 Jun 3;26(6):993-1011. doi: 10.1093/neuonc/noae032.
3
Combining MYD88 L265P mutation detection and clonality determination on CSF cellular and cell-free DNA improves diagnosis of primary CNS lymphoma.联合脑脊液细胞游离 DNA 中 MYD88 L265P 突变检测和克隆性确定可提高原发性中枢神经系统淋巴瘤的诊断率。
Br J Haematol. 2023 Jun;201(6):1088-1096. doi: 10.1111/bjh.18758. Epub 2023 Mar 20.
4
Rapid detection of the MYD88 L265P mutation for pre- and intra-operative diagnosis of primary central nervous system lymphoma.快速检测 MYD88 L265P 突变，用于原发性中枢神经系统淋巴瘤的术前和术中诊断。
Cancer Sci. 2023 Jun;114(6):2544-2551. doi: 10.1111/cas.15762. Epub 2023 Mar 1.
5
Circulating Tumor DNA Profiling for Detection, Risk Stratification, and Classification of Brain Lymphomas.循环肿瘤 DNA 分析在脑淋巴瘤的检测、风险分层和分类中的应用。
J Clin Oncol. 2023 Mar 20;41(9):1684-1694. doi: 10.1200/JCO.22.00826. Epub 2022 Dec 21.
6
High Detection Rate of Mutations in Cerebrospinal Fluid From Patients With CNS Lymphomas.中枢神经系统淋巴瘤患者脑脊液中突变的高检出率
JCO Precis Oncol. 2019 Dec;3:1-13. doi: 10.1200/PO.18.00308.
7
Liquid biopsy of cerebrospinal fluid for MYD88 L265P mutation is useful for diagnosis of central nervous system lymphoma.对脑脊液进行液体活检，检测 MYD88 L265P 突变，有助于中枢神经系统淋巴瘤的诊断。
Cancer Sci. 2021 Nov;112(11):4702-4710. doi: 10.1111/cas.15133. Epub 2021 Sep 27.
8
MYD88 L265P mutation and interleukin-10 detection in cerebrospinal fluid are highly specific discriminating markers in patients with primary central nervous system lymphoma: results from a prospective study.MYD88 L265P 突变和脑脊液中白细胞介素-10 的检测是原发性中枢神经系统淋巴瘤患者具有高度特异性的鉴别标志物：一项前瞻性研究的结果。
Br J Haematol. 2021 May;193(3):497-505. doi: 10.1111/bjh.17357. Epub 2021 Feb 23.
9
CSF interleukin 6 is a useful marker to distinguish pseudotumoral CNS inflammatory diseases from primary CNS lymphoma.脑脊液白细胞介素 6 是一种有用的标志物，可用于区分假性脑瘤性中枢神经系统炎症性疾病与原发性中枢神经系统淋巴瘤。
J Neurol. 2021 Aug;268(8):2890-2894. doi: 10.1007/s00415-021-10453-5. Epub 2021 Feb 20.
10
MYD88 p.(L265P) detection on cell-free DNA in liquid biopsies of patients with primary central nervous system lymphoma.原发性中枢神经系统淋巴瘤患者液体活检中游离DNA上MYD88 p.(L265P)的检测
Br J Haematol. 2019 Jun;185(5):974-977. doi: 10.1111/bjh.15674. Epub 2018 Nov 8.