Objective: To explore the clinical features of lymphoplasmacytic 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 × 109/L vs 10.80 × 109/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.
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（5.23×109/L对10.80×109/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。