华氏巨球蛋白血症的临床特征、MYD88（L265P）突变、CXCR4（WHIM）突变及预后评估：一项对93例患者的单中心回顾性研究
[Evaluation of clinical characteristics, MYD88(L265P) mutation, CXCR4(WHIM) mutation and prognosis in Waldenström macroglobulinemia: A single center retrospective study of 93 patients].
作者信息
Cao X X, Meng Q, Cai H, Mao Y Y, Duan M H, Zhu T N, Zhang W, Han B, Zhuang J L, Cai H C, Chen M, Feng J, Han X, Zhang Y, Yang C, Zhang L, Zhou D B, Li J
机构信息
Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 2017 Jun 14;38(6):494-498. doi: 10.3760/cma.j.issn.0253-2727.2017.06.006.
To evaluate the clinical characteristics, MYD88(L265P) mutation, CXCR4(W)HIM mutation and prognosis in patients with Waldenström macroglobulinemia (WM). The clinical characteristics, International Prognostic Scoring System for symptomatic WM (WPSS) , and overall survival (OS) were retrospectively assayed in 93 patients with newly diagnosed WM at Peking Union Medical College Hospital during January 2000 to August 2016. The MYD88(L265P) mutation and CXCR4(W)HIM mutation were tested among 34 patients. The median age of the 93 patients was 64 years (range, 33-85 years) with a male-to-female ratio of 2.44. According to WPSS, we included 16 (17.2%) low-risk, 44 (47.3%) intermediate-risk and 33 (35.5%) high-risk patients. Eight patients had secondary amyloidosis. With a median follow-up of 44 (1-201) months, the median OS was 84 months. Cox regression multifactor analysis showed WPSS risk group (=2.342, 95% 1.111-4.950, =0.025) , whether patients had secondary amyloidosis (=5.538, 95% 1.958-15.662, =0.001) and whether patients received new drugs (=3.392, 95% 1.531-7.513, =0.003) were independent factors associated with OS. We have investigated the presence of the MYD88(L265P) and CXCR4(WHIM) mutation in 34 patients and found that MYD88(L265P) mutation was occurred in 32 patients (94.1%) and CXCR4(WHIM) mutation was occurred in 8 patients (23.5%). Seven of 8 patients who harbored CXCR4(WHIM)-mutated also exhibited the MYD88(L)265P mutation. Patients with MYD88(L265P)CXCR4(WHIM) vs MYD88(L265P)CXCR4(WT) presented with more severe anemia, lower platelet level, higher M protein level and more hyper-viscosity syndrome. WPSS risk group, whether patients had secondary amyloidosis or received new drugs are independent factors for OS in WM. MYD88(L265P) and CXCR4(WHIM) mutation, the most common somatic variants in WM, often occur together and impact the clinical presentation.
评估华氏巨球蛋白血症（WM）患者的临床特征、MYD88（L265P）突变、CXCR4（W）HIM突变及预后。回顾性分析2000年1月至2016年8月在北京协和医院新诊断的93例WM患者的临床特征、有症状WM的国际预后评分系统（WPSS）及总生存期（OS）。对其中34例患者检测MYD88（L265P）突变和CXCR4（W）HIM突变。93例患者的中位年龄为64岁（范围33 - 85岁），男女比例为2.44。根据WPSS，低危患者16例（17.2%），中危患者44例（47.3%），高危患者33例（35.5%）。8例患者有继发性淀粉样变性。中位随访44（1 - 201）个月，中位OS为84个月。Cox回归多因素分析显示，WPSS风险组（=2.342，95% 1.111 - 4.950，=0.025）、患者是否有继发性淀粉样变性（=5.538，95% 1.958 - 15.662，=0.001）以及患者是否接受新药治疗（=3.392，95% 1.531 - 7.513，=0.003）是与OS相关的独立因素。我们对34例患者检测了MYD88（L265P）和CXCR4（WHIM）突变，发现32例患者（94.1%）发生MYD88（L265P）突变，8例患者（23.5%）发生CXCR4（WHIM）突变。8例携带CXCR4（WHIM）突变的患者中有7例也存在MYD88（L）265P突变。与MYD88（L265P）CXCR^{4（WT）}患者相比，MYD88（L265P）CXCR4（WHIM）患者贫血更严重、血小板水平更低、M蛋白水平更高且高黏滞综合征更多见。WPSS风险组、患者是否有继发性淀粉样变性或接受新药治疗是WM患者OS的独立因素。MYD88（L265P）和CXCR4（WHIM）突变是WM中最常见的体细胞变异，常共同出现并影响临床表现。
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