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与游离γ重链、游离κ轻链及IgGκ副蛋白相关的多发性骨髓瘤和多发性浆细胞瘤:一种罕见的三重丙种球蛋白病。

Multiple myeloma and multiple plasmacytomas associated with free gamma heavy chain, free kappa light chain and IgGk paraproteins: an unusual triple gammopathy.

作者信息

Deighan William I, O'Kane Maurice J, McNicholl Feargal P, Keren David F

机构信息

1 Department of Clinical Chemistry, Altnagelvin Hospital, Londonderry, N. Ireland.

2 Department of Haematology, Altnagelvin Hospital, Londonderry, N. Ireland.

出版信息

Ann Clin Biochem. 2016 Nov;53(6):706-711. doi: 10.1177/0004563216646594. Epub 2016 Sep 28.

Abstract

Multiple myeloma is a malignant plasma cell dyscrasia that is becoming more prevalent in an increasingly ageing population. It is a complex disease with clinical phases ranging from the premalignant monoclonal gammopathy of undetermined significance to asymptomatic (smouldering) myeloma and then symptomatic myeloma; the latter occasionally terminating in the clonal proliferation of plasma cells outside the bone marrow. We present a patient whose clonally evolved disease from monoclonal gammopathy of undetermined significance to multiple myeloma demonstrated the presence of an unusual combination of monoclonal immunoproteins. Capillary electrophoresis demonstrated the presence of three paraproteins in the gamma region (γ-region), two of which were additional to the IgGk paraprotein which migrated in the slow γ-region at initial diagnosis. Subsequent isotypic identification of the new paraproteins was not possible by immunotyping and initial immunofixation studies failed to definitively characterize the monoclonal proteins. After reduction with beta-mercaptoethanol, two paraproteins were detected by both capillary and gel electrophoresis. However, only immunofixation was able to resolve three distinct monoclonal bands, confirming the presence of free monoclonal kappa light chains in the mid-gamma region and free monoclonal heavy chains in the fast gamma region. Triple gammopathies in themselves are uncommon; this case presents a very unusual combination of paraproteins which required various electrophoretical and immunochemical techniques to identify and characterize them. The change of electrophoretic signature from the monoclonal gammopathy of undetermined significance phase to the diagnosis of multiple myeloma suggested that a number of genetically distinct subclones were present in the pretreatment clonal evolution of the disease.

摘要

多发性骨髓瘤是一种恶性浆细胞异常增生性疾病,在人口老龄化日益严重的情况下愈发普遍。它是一种复杂的疾病,临床阶段从意义未明的前恶性单克隆丙种球蛋白病到无症状(冒烟型)骨髓瘤,再到有症状的骨髓瘤;后者偶尔会发展为骨髓外浆细胞的克隆性增殖。我们报告了一名患者,其克隆性演变的疾病从意义未明的单克隆丙种球蛋白病发展为多发性骨髓瘤,显示出存在一种不寻常的单克隆免疫蛋白组合。毛细管电泳显示在γ区存在三种副蛋白,其中两种是在初始诊断时在慢γ区迁移的IgGκ副蛋白之外的。通过免疫分型无法对新的副蛋白进行后续的同型鉴定,最初的免疫固定研究也未能明确表征这些单克隆蛋白。用β-巯基乙醇还原后,通过毛细管电泳和凝胶电泳均检测到两种副蛋白。然而,只有免疫固定能够分辨出三条不同的单克隆带,证实了在中γ区存在游离的单克隆κ轻链,在快γ区存在游离的单克隆重链。三重丙种球蛋白病本身并不常见;该病例呈现出一种非常不寻常的副蛋白组合,需要各种电泳和免疫化学技术来识别和表征它们。从意义未明的单克隆丙种球蛋白病阶段到多发性骨髓瘤诊断的电泳特征变化表明,在该疾病的预处理克隆演变中存在一些基因上不同的亚克隆。

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