巨球蛋白血症患者临床特征和预后并与Pivotal研究比较

OBJECTIVE: This study aimed to summarize the clinical characteristics and prognosis of 108 patients with Waldenström macroglobulinemia（WM）in a single center and compare them with those of the Pivotal study with Bruton's tyrosine kinase inhibitor（BTKi）monotherapy. METHODS: The clinical characteristics, international prognostic index score（IPSS）, first-line treatment, progression-free survival（PFS）, and overall survival（OS）of 108 patients with newly diagnosed WM from March 2008 to February 2021 were retrospectively evaluated. The MYD88 mutation was tested among 52 patients. RESULTS: The median age of the 108 patients was 63 years（range, 38-78 years）with a male-to-female ratio of 3.5∶1. According to IPSS, we included 40％（n＝43）high-risk, 33％（n＝36）intermediate-risk, and 27％（n＝29）low-risk patients. In this study, no significant difference was observed in age, gender, IPSS risk, serum immunoglobulin M（IgM）, and platelet counts compared to the baseline characteristics of 63 patients in the pivotal study. However, hemoglobin（86 g/L vs 105 g/L）, serum β(2)-MG（3.1 mg/L vs 3.9 mg/L）, bone marrow involvement（13％ vs 60％）, and the proportion of adenopathy（41％ vs 59％）were significantly lower than those in the Pivotal group. The proportion of patients with splenomegaly（27％ vs 11％）was significantly higher than that of the Pivotal group. All the differences were statistically different（all P values <0.05）. The overall positive rate of MYD88 mutation was 77％. With a median follow-up of 36（1–121）months, the median OS was 95 months, and the median PFS was 35 months. The 2-year OS rate（83％ vs 96％）and 5-year OS rate（67％ vs 87％）of patients with WM in our center were lower than those in the Pivotal group. The proportion of novel treatments based on BTKi, CD20 monoclonal antibody, and proteasome inhibitors in our center from 2008 to 2021 has gradually increased from 50％ to 93％. The long-term OS of patients diagnosed in 2015–2021 was improved compared with that in 2008–2014（P＝0.048）. CONCLUSION: Novel drugs, including BTKi, continue to benefit patients with WM and improve their survival. It is worthwhile to further explore the positivity of MYD88 and CXCR4 mutations in the Chinese population and their sensitivity to BTKi.