García-Castillo Herbert, Leal-Ugarte Evelia, Ortiz Lazareno Pablo César, Barrera-Chairez Esperanza, Rosales-García Víctor Hugo, Barros-Núñez Patricio
División de Genética, Centro de Investigación de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.
Med Oncol. 2014 Apr;31(4):900. doi: 10.1007/s12032-014-0900-0. Epub 2014 Mar 1.
Multiple myeloma (MM) is characterized by abnormal proliferation of clonal plasma cells or monoclonal plasmacytosis, resulting in accumulation of clonal immunoglobulins. Monoclonal gammopathy of unknown significance (MGUS) is considered a premorbid stage for developing MM. Studies have shown an increased risk of MGUS in first-degree relatives of patients with MM. Detection of immunoglobulin heavy chain gene (IGH) rearrangement provides a useful tool for assessing clonality. The aim of this study was to determine clonality in peripheral blood samples from 61 healthy first-degree relatives of MM probands by sorting circulating lymphocytes and detection of the IGH rearrangements in these cells. We detected 16 out of 61 (26.2%) relatives with monoclonal complete and incomplete IGH rearrangements; only three of them showed elevated monoclonal immunoglobulin in the serum protein electrophoresis. We conclude that this strategy is able to identify efficiently clonality in peripheral blood samples from first-degree relatives of patients with MM, who have a non-negligible risk of developing MGUS or other plasma cell dyscrasias.
多发性骨髓瘤（MM）的特征是克隆性浆细胞异常增殖或单克隆浆细胞增多，导致克隆性免疫球蛋白积聚。意义未明的单克隆丙种球蛋白病（MGUS）被认为是发生MM的前驱阶段。研究表明，MM患者的一级亲属患MGUS的风险增加。免疫球蛋白重链基因（IGH）重排的检测为评估克隆性提供了一种有用的工具。本研究的目的是通过分选循环淋巴细胞并检测这些细胞中的IGH重排，来确定61名MM先证者健康一级亲属外周血样本中的克隆性。我们在61名亲属中检测到16名（26.2%）有单克隆完全和不完全IGH重排；其中只有3人在血清蛋白电泳中显示单克隆免疫球蛋白升高。我们得出结论，该策略能够有效识别MM患者一级亲属外周血样本中的克隆性，这些亲属发生MGUS或其他浆细胞发育异常的风险不可忽视。
