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第三届沃尔登斯特伦巨球蛋白血症国际研讨会共识小组报告:沃尔登斯特伦巨球蛋白血症分子诊断的建议。

Report of Consensus Panel 3 from the 11th International workshop on Waldenström's Macroglobulinemia: Recommendations for molecular diagnosis in Waldenström's Macroglobulinemia.

机构信息

Hematology Department, University Hospital of Salamanca, Research Biomedical Institute of Salamanca (IBSAL), CIBERONC and Center for Cancer Research-IBMCC (University of Salamanca-CSIC), Salamanca, Spain.

Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Italy.

出版信息

Semin Hematol. 2023 Mar;60(2):90-96. doi: 10.1053/j.seminhematol.2023.03.007. Epub 2023 Apr 6.

Abstract

Apart from the MYD88 mutation, extensive information exists on the molecular mechanisms in Waldenström's Macroglobulinemia and its potential utility in the diagnosis and treatment tailoring. However, no consensus recommendations are yet available. Consensus Panel 3 (CP3) of the 11th International Workshop on Waldenström's Macroglobulinemia (IWWM-11) was tasked with reviewing the current molecular necessities and best way to access the minimum data required for a correct diagnosis and monitoring. Key recommendations from IWWM-11 CP3 included: (1) molecular studies are warranted for patients in whom therapy is going to be started; such studies should also be done in those whose bone marrow (BM) material is sampled based on clinical issues; (2) molecular studies considered essential for these situations are those that clarify the status of 6q and 17p chromosomes, and MYD88, CXCR4, and TP53 genes. These tests in other situations, and/or other tests, are considered optional; (3) independently of the use of more sensitive and/or specific techniques, the minimum requirements are allele specific polymerase chain reaction for MYD88 and CXCR4 using whole BM, and fluorescence in situ hybridization for 6q and 17p and sequencing for CXCR4 and TP53 using CD19+ enriched BM; (4) these requirements refer to all patients; therefore, sample should be sent to specialized centers.

摘要

除了 MYD88 突变,华氏巨球蛋白血症的分子机制及其在诊断和治疗中的潜在应用方面已经有了广泛的信息。然而,目前还没有共识性的建议。第 11 届华氏巨球蛋白血症国际研讨会(IWWM-11)的共识小组 3(CP3)负责审查当前的分子必要性,并找到获取正确诊断和监测所需的最小数据的最佳方法。IWWM-11 CP3 的主要建议包括:(1)对于将要开始治疗的患者,需要进行分子研究;对于那些基于临床问题采样骨髓(BM)材料的患者,也应该进行这些研究;(2)对于这些情况,认为必要的分子研究是那些阐明 6q 和 17p 染色体以及 MYD88、CXCR4 和 TP53 基因状态的研究。在其他情况下,这些测试和/或其他测试被认为是可选的;(3)无论使用更敏感和/或更特异的技术,最小要求是使用整个 BM 的等位基因特异性聚合酶链反应检测 MYD88 和 CXCR4,以及使用 CD19+富集 BM 的荧光原位杂交检测 6q 和 17p 和测序检测 CXCR4 和 TP53;(4)这些要求适用于所有患者;因此,应将样本送到专门的中心。

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