Waldenström macroglobulinemia: diagnosis and treatment

Waldenström macroglobulinemia (WM), according to the 2017 World Health Organization classification, is defined as the co-occurrence of lymphoplasmacytic lymphoma involving the bone marrow with monoclonal gammopathy of the IgM class regardless of the concentration of monoclonal protein. It is a rare lymphoproliferative disease with distinctive clinical features. Diagnostic characteristics in WM have changed significantly with the discovery of two molecular markers: MYD88 and CXCR4. The mutational status of these markers both affects clinical presentation and has shown therapeutic implications. The choice of treatment in WM is closely dependent on the patient’s age, risk of treatment-related neuropathy, and risk of immunosuppression or secondary malignancies. The therapeutic landscape has broadened in recent years, and the approvals of ibrutinib and zanubrutinib represent a significant step forward toward better management of the disease.