Hematology Department, University Hospital of Salamanca (HUS/IBSAL), CIBERONC and Cancer Research Institute of Salamanca-IBMCC (USAL-CSIC), 37007 Salamanca, Spain.
Int J Mol Sci. 2022 May 16;23(10):5570. doi: 10.3390/ijms23105570.
The gene has a physiological role in the innate immune system. Somatic mutations in , including the most common L265P, have been associated with the development of certain types of lymphoma. is present in more than 90% of patients with Waldenström's macroglobulinemia (WM) and IgM monoclonal gammopathy of undetermined significance (IgM-MGUS). The absence of mutations in WM patients has been associated with a higher risk of transformation into aggressive lymphoma, resistance to certain therapies (BTK inhibitors), and shorter overall survival. The MyD88 signaling pathway has also been used as a target for specific therapies. In this review, we summarize the clinical applications of testing in the diagnosis, prognosis, follow-up, and treatment of patients. Although is not specific to WM, few tumors present a single causative mutation in a recurrent position. The role of the oncogene in the pathogenesis of WM is still unclear, especially considering that the mutation can be found in normal B cells of patients, as recently reported. This may have important implications for early lymphoma detection in healthy elderly individuals and for the treatment response assessment based on a analysis.
该基因在先天免疫系统中具有生理作用。体细胞突变，包括最常见的 L265P，与某些类型的淋巴瘤的发展有关。在超过 90%的瓦尔登斯特伦巨球蛋白血症（WM）和意义未明的免疫球蛋白 M 单克隆丙种球蛋白血症（IgM-MGUS）患者中存在。WM 患者中不存在 突变与向侵袭性淋巴瘤转化、对某些治疗（BTK 抑制剂）的耐药性以及总生存期缩短的风险增加有关。MyD88 信号通路也被用作特定治疗的靶点。在这篇综述中，我们总结了 检测在患者的诊断、预后、随访和治疗中的临床应用。尽管 并非特异性针对 WM，但很少有肿瘤在一个反复出现的位置呈现单一的致癌突变。癌基因在 WM 发病机制中的作用仍不清楚，特别是考虑到最近有报道称该突变可存在于患者的正常 B 细胞中。这可能对健康老年人的早期淋巴瘤检测以及基于 分析的治疗反应评估具有重要意义。
