第11届Waldenström巨球蛋白血症国际研讨会共识小组3的报告:对Waldensteröm大球蛋白血症分子诊断的建议

IF 5 3区 医学 Q1 HEMATOLOGY Seminars in hematology Pub Date : 2023-03-01 DOI:10.1053/j.seminhematol.2023.03.007
Ramón Garcia-Sanz , Marzia Varettoni , Cristina Jiménez , Simone Ferrero , Stephanie Poulain , Jesus F. San-Miguel , Maria L. Guerrera , Daniela Drandi , Tina Bagratuni , Mary McMaster , Aldo M. Roccaro , Damien Roos-Weil , Merav Leiba , Yong Li , Luigi Qiu , Jian Hou , C. Fernandez De Larrea , Jorge J. Castillo , M. Dimopoulos , R.G. Owen , Z.R. Hunter
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引用次数: 2

摘要

除了MYD88L265P突变外,关于Waldenström巨球蛋白血症的分子机制及其在诊断和治疗中的潜在用途,还有大量信息。然而,目前还没有达成一致的建议。第11届Waldenström巨球蛋白血症国际研讨会(IWWM-11)的共识小组3(CP3)的任务是审查当前的分子必要性和获得正确诊断和监测所需最低数据的最佳方式。IWWM-11 CP3的主要建议包括:(1)有必要对即将开始治疗的患者进行分子研究;这种研究也应该在那些基于临床问题对骨髓(BM)材料进行采样的人中进行;(2) 被认为对这些情况至关重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。其他情况下的这些测试和/或其他测试被认为是可选的;(3) 独立于使用更灵敏和/或特异性的技术,最低要求是使用全BM对MYD88L265P和CXCR4S338X进行等位基因特异性聚合酶链反应,以及使用CD19+富集的BM对6q和17p进行荧光原位杂交和对CXCR4和TP53进行测序;(4) 这些要求适用于所有患者;因此,样品应该送到专门的中心。
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Report of Consensus Panel 3 from the 11th International workshop on Waldenström's Macroglobulinemia: Recommendations for molecular diagnosis in Waldenström's Macroglobulinemia

Apart from the MYD88L265P 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 MYD88L265P and CXCR4S338X 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.

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来源期刊
Seminars in hematology
Seminars in hematology 医学-血液学
CiteScore
6.20
自引率
2.80%
发文量
30
审稿时长
35 days
期刊介绍: Seminars in Hematology aims to present subjects of current importance in clinical hematology, including related areas of oncology, hematopathology, and blood banking. The journal''s unique issue structure allows for a multi-faceted overview of a single topic via a curated selection of review articles, while also offering a variety of articles that present dynamic and front-line material immediately influencing the field. Seminars in Hematology is devoted to making the important and current work accessible, comprehensible, and valuable to the practicing physician, young investigator, clinical practitioners, and internists/paediatricians with strong interests in blood diseases. Seminars in Hematology publishes original research, reviews, short communications and mini- reviews.
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