浆细胞肿瘤患者临床病理学及分子生物学特征分析  

Analysis of clinicopathological and molecular biological characteristics of patients with plasma cell tumor

作　　者：刘洁[1] 常进[1] 贺建霞 马月宏[2] Liu Jie;Chang Jin;He Jianxia;Ma Yuehong(Department of Hematology,Shanxi Provincial People's Hospital,Taiyuan 030012,China;Diagnosis and Treatment Center of Precision Medicine,Shanxi Provincial People's Hospital,Taiyuan 030012,China)

机构地区：[1]山西省人民医院血液科,太原030012 [2]山西省人民医院精准医学诊断治疗中心,太原030012

出　　处：《白血病．淋巴瘤》2020年第10期599-604,共6页Journal of Leukemia & Lymphoma

摘　　要：目的探讨浆细胞肿瘤患者的临床病理学及分子生物学特点。方法收集2016年1月至2018年10月山西省人民医院收治的84例浆细胞肿瘤患者骨髓液、骨髓组织、外周血、尿液检查资料,其中骨髓液行骨髓涂片、染色体核型分析、荧光原位杂交(FISH)、免疫分型、第二代基因测序(NGS)等检测;外周血除用于细胞形态观察以外,还与尿液一同用于免疫固定电泳及游离轻链检查;骨髓组织用于观察骨髓组织结构及纤维化情况,并进行相关组织化学及免疫组织化学检查。结果84例浆细胞肿瘤患者中,2例(2.4%)为意义未明的单克隆免疫球蛋白血症(MGUS),78例(92.8%)为多发性骨髓瘤(其中IgGκ型38例,IgGλ型33例,IgAκ型2例,IgAλ型1例,轻链型3例,不分泌型1例),3例(3.6%)为华氏巨球蛋白血症,1例(1.2%)为不分泌型多发性骨髓瘤(NSM)。81例患者骨髓涂片检查可见异常浆细胞比例为0.132~0.676,79例流式细胞术检查可见异常单克隆浆细胞比例为1.1%~52.4%;骨髓病理免疫组织化学及流式细胞术检查显示CD38、CD138呈阳性或弱阳性;染色体核型分析显示复杂核型少见;FISH检查示24例(28.6%)IGH分离,基因检测IGH-CCND1、IGH-MAF阳性各1例;1例行游离轻链检查,结果为阳性;NGS阳性率偏低。结论浆细胞肿瘤以IgG型为主,其次为IgA型,轻链型较少见,IgM型及不分泌型极少见。不同克隆类型的浆细胞肿瘤骨髓细胞有不同的形态学表现。Objective To investigate the clinicopathological and molecular biological characteristics of patients with plasma cell tumor.Methods The data of bone marrow fluid, bone marrow tissue, peripheral blood and urine specimens of 84 patients with plasma cell tumor from January 2016 to October 2018 in Shanxi Provincial People's Hospital were collected. Bone marrow fluid was examined by using bone marrow smear, karyotype analysis, fluorescence in situ hybridization (FISH), immunophenotyping, and next-generation sequencing (NGS). In addition to the observation of cell morphology, peripheral blood together with urine specimens was also determined by using immune-fixation electrophoresis and free light chain examination. Bone marrow tissue was used to observe the structure and fibrosis of bone marrow, and relevant histochemistry and immunohistochemistry was also performed.Results Among 84 patients with plasma cell tumor, 2 patients (2.4%) were monoclonal gammopathies of un-determined significance (MGUS), 78 patients (92.8%) were multiple myeloma (MM) (38 cases were IgG Kappa type, 33 cases were IgG Lambda type, 2 cases were IgA Kappa type, 1 case was IgA Lambda type, 3 cases were light chain type, 1 case was non-secretory type), 3 cases (3.6%) were Waldenstrom macroglobulinemia (WM), and 1 case (1.2%) was non-secretory myeloma (NSM). The proportion of abnormal plasma cells detected by bone marrow smear was 0.132-0.676 in 81 patients, and the proportion of abnormal monoclonal plasma cells detected by flow cytometry (FCM) was 1.1%-52.4% in 79 patients. Immunohistochemistry and FCM detection of bone marrow showed positive or weak positive results of CD38 and CD138. Complex karyotype was rare in karyotype analysis. FISH examination showed IGH isolation in 24 patients (28.6%) and gene detection showed 1 case was positive IGH-CCND1 and 1 case was positive IGH-MAF;1 case of free light chain examination was positive. The positive rate of NGS was lower.Conclusion Most plasma cell tumors are IgG type, followed by IgA type. Light chai

关 键 词：肿瘤 浆细胞 病理学 临床 免疫表型分型 分子生物学 

分 类 号：R733.3[医药卫生—肿瘤]