19例淋巴浆细胞淋巴瘤/华氏巨球蛋白血症的临床病理观察

Lymphoplasmacytic lymphomas/Waldenstrom macroglobulinemia: a clinicopathological analysis of 19 cases

目的探讨淋巴浆细胞淋巴瘤/华氏巨球蛋白血症的临床病理特征、免疫表型、诊断及鉴别诊断。方法对19例淋巴浆细胞淋巴瘤/华氏巨球蛋白血症进行骨髓活检、免疫组化染色、流式细胞免疫表型及MYD88 L265P及CXCR4 WHIM基因突变检查并复习相关文献。结果男11例,女8例。肿瘤性淋巴细胞增生模式以弥漫型为主,其周围及淋巴细胞间常见浆细胞增生,背景常见肥大细胞。免疫表型为:CD5、CD43、Bcl-6、CD103阴性;FMC7、IgM及泛B抗原阳性;3例(3/12)表达CD11c,2例(2/14)表达CD13,2例(2/19)表达CD10。9例行MYD88 L265P基因测序均检测到突变,6例行CXCR4 WHIM基因测序有3例检测到移码突变。结论淋巴浆细胞淋巴瘤/华氏巨球蛋白血症是一种较少见的病种,诊断需结合临床表现、病理组织学特点、免疫组化和/或相关基因检测诊断。

Objective To explore the clinicopathological features,immunophenotype,diagnosis and differential diagnosis of lymphoplasmacytic lymphomas/Waldenstrom macroglobulinemia(LPL/WM).Methods 19 cases of LPL/WM were studied by microscopic observation of bone marrow biopsy,immunohistochemical staining,flow cytometry and NGS of MYD88 L265 P,CXCR4 WHIM gene mutation.The related literatures were reviewed.Results 19 cases included 11 males and 8 females.The most frequent pattern of bone marrow involvement was diffuse pattern.The plasma cells infiltrated or surrounded the neoplastic lymphocytes.Besides,the mast cells were easily observed.The tumor cells were positive for FMC7,IgM and pan-B antigens,while negative for CD5,CD43,Bcl-6,CD103.Among of 12 cases,three were positive for CD11 c;among of 14 cases,two were positive for CD13;among of 19 cases,two were positive for CD10.Among of 9 cases,nine had MYD88 L265 P mutation and 3 had CXCR4 WHIM frameshift mutation among of 6 cases.Conclusions LPL/WM is relatively rare.The correct diagnosis is based on clinical,morphologic features,immunophenotypes and gene mutations.