Abstract：
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.
摘要：
除了MYD88L265P突变,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的广泛信息。然而,目前尚无共识建议。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以及获取正确诊断和监测所需最低数据的最佳方法。IWWM-11CP3的主要建议包括：（1）对将要开始治疗的患者进行分子研究；也应根据临床问题对骨髓（BM）材料进行采样的患者进行此类研究；（2）对这些情况至关重要的分子研究是那些阐明6q和17p染色体状态的研究，以及MYD88、CXCR4和TP53基因。这些测试在其他情况下，和/或其他测试，被认为是可选的；(3)独立于使用更敏感和/或特定的技术，最低要求是使用整个BM的MYD88L265P和CXCR4S338X的等位基因特异性聚合酶链反应，和6q和17p的荧光原位杂交以及使用CD19富集的BM对CXCR4和TP53进行测序；（4）这些要求涉及所有患者；因此，样品应送到专业中心。
