Department of Immunology, Birmingham Heartlands Hospital, Birmingham, UK.
Acta Haematol. 2010;123(3):158-61. doi: 10.1159/000292899. Epub 2010 Mar 10.
We describe the case of a 34-year-old gentleman investigated for persistent neutropaenia following two episodes of pneumonia. Specialist investigations led to the diagnosis of multiple myeloma (MM) producing a truncated monoclonal gamma(3) heavy chain (HC) immunoglobulin molecule unattached to a light chain (LC) with atypical features for both MM and HC disease. Western blot showed gamma(3)HC was truncated with a large deletion (75 kDa). Flow cytometry of the bone marrow aspirate revealed an unusual staining pattern. This plasma cell dyscrasia was also unusual in that a subpopulation (30%) secreted large quantities of free LC (FLC) as well as truncated IgG HC. This is the first description, investigation and treatment of MM with a plasma cell population producing truncated gamma(3)HC and kappaFLC M-proteins and illustrates a number of unique immunological and clinical features.
我们描述了一例 34 岁男性,因两次肺炎后持续中性粒细胞减少而接受检查。专业检查导致多发性骨髓瘤(MM)的诊断,该患者产生截断的单克隆γ(3)重链(HC)免疫球蛋白分子,不与轻链(LC)连接,其 MM 和 HC 疾病均具有非典型特征。免疫印迹显示γ(3)HC 截断,存在较大缺失(75 kDa)。骨髓抽吸物的流式细胞术显示出异常的染色模式。这种浆细胞发育异常也很不寻常,因为亚群(30%)分泌大量游离 LC(FLC)和截断的 IgG HC。这是首例描述、检查和治疗产生截断γ(3)HC 和 κFLC M 蛋白的浆细胞群的 MM,并说明了许多独特的免疫学和临床特征。