Mazzucchelli Maddalena, Frustaci Anna Maria, Deodato Marina, Cairoli Roberto, Tedeschi Alessandra
Department of Haematology, Niguarda Cancer Center, ASST Grande Ospedale Metropolitano Niguarda, Milano.
Mediterr J Hematol Infect Dis. 2018 Jan 1;10(1):e2018004. doi: 10.4084/MJHID.2018.004. eCollection 2018.
Waldenstrom Macroglobulinemia is a rare lymphoproliferative disorder with distinctive clinical features. Diagnostic and prognostic characterisation in WM significantly changed with the discovery of two molecular markers: MYD88 and CXCR4. Mutational status of these latter influences both clinical presentation and prognosis and demonstrated therapeutic implications. Treatment choice in Waldenstrom disease is strictly guided by patients age and characteristics, specific goals of therapy, the necessity for rapid disease control, the risk of treatment-related neuropathy, disease features, the risk of immunosuppression or secondary malignancies and potential for future autologous stem cell transplantation. The therapeutic landscape has expanded during the last years and the approval of ibrutinib, the first drug approved for Waldenstrom Macroglobulinemia, represents a significant step forward for a better management of the disease.
华氏巨球蛋白血症是一种具有独特临床特征的罕见淋巴增殖性疾病。随着两种分子标志物MYD88和CXCR4的发现，华氏巨球蛋白血症的诊断和预后特征发生了显著变化。后者的突变状态影响临床表现和预后，并具有治疗意义。华氏巨球蛋白血症的治疗选择严格取决于患者的年龄和特征、治疗的具体目标、快速控制疾病的必要性、治疗相关神经病变的风险、疾病特征、免疫抑制或继发性恶性肿瘤的风险以及未来自体干细胞移植的可能性。在过去几年中，治疗前景有所扩展，伊布替尼的获批是治疗华氏巨球蛋白血症的首个药物，这代表了在更好地管理该疾病方面向前迈出的重要一步。
