伴MyD88 L265P突变淋巴浆细胞疾病患者的临床特征分析

The clinical features of patients with lymphoplasmacytic diseases harboring MyD88 L265P mutation

目的 研究伴髓样分化因子88 （MyD88） L265P突变淋巴浆细胞疾病患者的临床特征.方法 采用突变扩增系统PCR-毛细管电泳（ARMS PCR-CE）法检测81例淋巴浆细胞疾病患者中MyD88 L265P突变的分布,结合患者的临床特征进行分析.结果 81例患者中MyD88 L265P突变阳性者25例（30.9％）,其中以华氏巨球蛋白血症（WM）多见（77.8％,14/18）,后依次为淋巴浆细胞淋巴瘤（66.7％,2/3）、急性淋巴细胞白血病（50.0％,1/2）、多发性骨髓瘤（30.0％,3/10）、意义未明的单克隆丙种球蛋白病（25.0％,1/4）、慢性淋巴细胞白血病（13.0％,3/23）、淋巴瘤（4.8％,1/21）.25例突变患者中20例（80.0％）为IgM型.与未突变组患者比较,突变组患者年龄较大（67对55岁,P＜0.001）、WBC较低（5.23×10^9/L对10.80×10^9/L,P=0.001）、HGB较低（85对119 g/L,P＜0.001）.结论 MyD88 L265P突变多见于IgM型淋巴浆细胞疾病,以WM多见,与未突变者比较,伴此突变者年龄较大,WBC、HGB较低.其预后意义尚需进一步研究予以明确.

Objective To explore the clinical features oflymphoplasmacytic diseases with MyD88 L265P mutation.Methods To analyze the distribution of MYD88 L265P mutation in patients with lymphoplasmacytic diseases by using of ARMS PCR-CE.Results There were 25（30.9%） MyD88 L265P mutated patients in 81 patients.The mutation was frequently observed in 14 patients with WM （77.8%,14/ 18）,2 patients with lymphoplasmacytic lymphoma （66.7%,2/3）,1 acute lymphocytic leukemia patient （50.0%,1/2）,3 multiple myeloma patients （30.0%,3/10）,1 patient with monoclonal gammopathy of undetermined significance （25%,1/4）,3 patients with chronic lymphocytic leukemia （13.0%,3/23） and 1 lymphoma patient （4.8%,1/21）.20 （80%,20/25） patients were identified with IgM subtype.Compared with wild-type group of 56 cases,mutated patients were older （median age：67 years vs 55 years,P〈 0.001）,with lower WBC count （median count：5.23 × 10^9/L vs 10.80× 10^9/L,P=0.001）,lower HGB level （median count：85 g/L vs 119 g/L,P〈0.001）.Conclusion MyD88 L265P mutation was mainly observed in patients with IgM subtype lymphoplasmacytic diseases,and Waldenstrom＇s macroglobulinemia was the most common disease.Compared with the wild-type group,patients with MyD88 L265P mutation were older and had lower WBC count,lower level of HGB.However,further studies were needed to test the prognostic value of MyD88 L265P mutation.