Drandi Daniela, Decruyenaere Philippe, Ferrante Martina, Offner Fritz, Vandesompele Jo, Ferrero Simone
Department of Molecular Biotechnology and Health Sciences, Hematology Division, University of Torino, 10126 Torino, Italy.
Department of Hematology, Ghent University Hospital, 9000 Ghent, Belgium.
Diagnostics (Basel). 2022 Apr 12;12(4):969. doi: 10.3390/diagnostics12040969.
Waldenström Macroglobulinemia (WM) is an indolent lymphoplasmacytic lymphoma, characterized by the production of excess immunoglobulin M monoclonal protein. WM belongs to the spectrum of IgM gammopathies, ranging from asymptomatic IgM monoclonal gammopathy of undetermined significance (IgM-MGUS), through IgM-related disorders and asymptomatic WM to symptomatic WM. In recent years, its complex genomic and transcriptomic landscape has been extensively explored, hereby elucidating the biological mechanisms underlying disease onset, progression and therapy response. An increasing number of mutations, cytogenetic abnormalities, and molecular signatures have been described that have diagnostic, phenotype defining or prognostic implications. Moreover, cell-free nucleic acid biomarkers are increasingly being investigated, benefiting the patient in a minimally invasive way. This review aims to provide an extensive overview of molecular biomarkers in WM and IgM-MGUS, considering current shortcomings, as well as potential future applications in a precision medicine approach.
华氏巨球蛋白血症（WM）是一种惰性淋巴浆细胞淋巴瘤，其特征是产生过量的免疫球蛋白M单克隆蛋白。WM属于IgM型丙种球蛋白病范畴，从意义未明的无症状IgM单克隆丙种球蛋白病（IgM-MGUS），经过与IgM相关的疾病和无症状WM，到有症状的WM。近年来，其复杂的基因组和转录组格局已得到广泛探索，从而阐明了疾病发生、进展和治疗反应的生物学机制。已描述了越来越多具有诊断、表型定义或预后意义的突变、细胞遗传学异常和分子特征。此外，游离核酸生物标志物的研究也越来越多，以微创方式使患者受益。本综述旨在全面概述WM和IgM-MGUS中的分子生物标志物，同时考虑当前的不足以及在精准医学方法中的潜在未来应用。
